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EnsemblEnsembl Home
Description

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 [Source:HGNC Symbol;Acc:HGNC:5163]

Gene Synonyms

BLOC3S1, HPS

Location
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
HPS1-204ENST00000361490.93703700aaENSP00000355310.4
 
Protein coding
CCDS7475Q92902-1 NM_000195.5MANE Select v0.93Ensembl CanonicalGENCODE basicAPPRIS P2TSL:1
HPS1-201ENST00000325103.103703700aaENSP00000326649.6
 
Protein coding
CCDS7475Q92902-1 -GENCODE basicAPPRIS P2TSL:5
HPS1-202ENST00000338546.91580324aaENSP00000343638.5
 
Protein coding
CCDS7476Q92902-3 -GENCODE basicAPPRIS ALT2TSL:1
HPS1-203ENST00000359632.7978326aaENSP00000352652.3
 
Protein coding
-Q5TAA8 -TSL:3CDS 5' and 3' incomplete
HPS1-205ENST00000414009.1857159aaENSP00000392462.1
 
Protein coding
-H0Y4K4 -TSL:2CDS 5' incomplete
HPS1-208ENST00000467246.52791No protein-
 
Processed transcript
---TSL:1
HPS1-211ENST00000478087.5971No protein-
 
Processed transcript
---TSL:5
HPS1-207ENST00000465957.1922No protein-
 
Processed transcript
---TSL:2
HPS1-214ENST00000498219.5845No protein-
 
Processed transcript
---TSL:5
HPS1-209ENST00000470095.5801No protein-
 
Processed transcript
---TSL:5
HPS1-212ENST00000480020.5795No protein-
 
Processed transcript
---TSL:5
HPS1-210ENST00000474873.5698No protein-
 
Processed transcript
---TSL:2
HPS1-213ENST00000497527.1536No protein-
 
Processed transcript
---TSL:3
HPS1-206ENST00000462743.1431No protein-
 
Processed transcript
---TSL:3
Description

alpha tubulin acetyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:21186]

Gene Synonyms

C6orf134, Em:AB023049.7, FLJ13158, MEC17

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ATAT1-276ENST00000442844.61476421aaENSP00000394914.2
 
Protein coding
-Q5SQI0-1 -Ensembl CanonicalGENCODE basicTSL:5
ATAT1-273ENST00000423654.52646323aaENSP00000403142.1
 
Protein coding
-Q5SQI0-5 -GENCODE basicTSL:2
ATAT1-277ENST00000449905.52611300aaENSP00000399529.1
 
Protein coding
-Q5SQI0-7 -GENCODE basicTSL:1
ATAT1-274ENST00000428764.62119333aaENSP00000399509.2
 
Protein coding
-Q5SQI0-4 -GENCODE basicTSL:1
ATAT1-275ENST00000430611.52061310aaENSP00000409296.1
 
Protein coding
-Q5SQI0-6 -GENCODE basicTSL:2
ATAT1-272ENST00000416435.21728409aaENSP00000412993.2
 
Protein coding
-Q5SQI0-2 -GENCODE basicTSL:1
ATAT1-279ENST00000472552.51195No protein-
 
Processed transcript
---TSL:3
ATAT1-282ENST00000491201.5400No protein-
 
Processed transcript
---TSL:3
ATAT1-278ENST00000464565.51527No protein-
 
Retained intron
---TSL:1
ATAT1-283ENST00000497740.1929No protein-
 
Retained intron
---TSL:5
ATAT1-281ENST00000482394.5718No protein-
 
Retained intron
---TSL:2
ATAT1-280ENST00000474976.1691No protein-
 
Retained intron
---TSL:5
Description

leucine rich repeat containing 27 [Source:HGNC Symbol;Acc:HGNC:29346]

Gene Synonyms

KIAA1674

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
LRRC27-204ENST00000368614.87971530aaENSP00000357603.3
 
Protein coding
CCDS31316Q9C0I9-1 NM_030626.3MANE Select v0.93Ensembl CanonicalGENCODE basicAPPRIS P2TSL:1
LRRC27-203ENST00000368613.82113530aaENSP00000357602.4
 
Protein coding
CCDS31316Q9C0I9-1 -GENCODE basicAPPRIS P2TSL:1
LRRC27-201ENST00000344079.91809383aaENSP00000342641.5
 
Protein coding
CCDS44496Q9C0I9-3 -GENCODE basicAPPRIS ALT2TSL:2
LRRC27-214ENST00000625755.21738383aaENSP00000486582.1
 
Protein coding
CCDS44495Q9C0I9-4 -GENCODE basicAPPRIS ALT2TSL:1
LRRC27-202ENST00000368612.31765468aaENSP00000357601.1
 
Protein coding
-Q9C0I9-2 -GENCODE basicAPPRIS ALT2TSL:2
LRRC27-206ENST00000462656.52302No protein-
 
Processed transcript
---TSL:2
LRRC27-205ENST00000450442.3774No protein-
 
Processed transcript
---TSL:3
LRRC27-213ENST00000490055.5736No protein-
 
Processed transcript
---TSL:3
LRRC27-208ENST00000472556.5646No protein-
 
Processed transcript
---TSL:1
LRRC27-207ENST00000472387.5540No protein-
 
Processed transcript
---TSL:3
LRRC27-211ENST00000487000.1479No protein-
 
Processed transcript
---TSL:3
LRRC27-212ENST00000489204.1459No protein-
 
Processed transcript
---TSL:2
LRRC27-210ENST00000476889.1299No protein-
 
Processed transcript
---TSL:3
LRRC27-209ENST00000475747.52660No protein-
 
Retained intron
---TSL:2
Description

actin, beta [Source:MGI Symbol;Acc:MGI:87904]

Gene Synonyms

A-X actin-like protein, Actx, E430023M04Rik, beta-actin

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchFlags
Actb-201ENSMUST00000100497.111920375aaENSMUSP00000098066.5
 
Protein coding
CCDS19833B2RRX1 P60710 GENCODE basicAPPRIS P1TSL:1
Actb-207ENSMUST00000167721.81242295aaENSMUSP00000127663.2
 
Protein coding
-E9Q1F2 GENCODE basicTSL:5
Actb-208ENSMUST00000171419.8930265aaENSMUSP00000130611.2
 
Protein coding
-E9Q5F4 TSL:1CDS 3' incomplete
Actb-202ENSMUST00000106216.3536150aaENSMUSP00000101823.3
 
Protein coding
-E9Q606 TSL:3CDS 3' incomplete
Actb-203ENSMUST00000163829.2401108aaENSMUSP00000132135.2
 
Protein coding
-E9Q2D1 TSL:2CDS 3' incomplete
Actb-206ENSMUST00000167386.8894No protein-
 
Processed transcript
--TSL:3
Actb-209ENSMUST00000196997.2241No protein-
 
Processed transcript
--TSL:5
Actb-204ENSMUST00000164765.2863No protein-
 
Retained intron
--TSL:1
Actb-205ENSMUST00000165629.2861No protein-
 
Retained intron
--TSL:2
Description

BCAS3 microtubule associated cell migration factor [Source:HGNC Symbol;Acc:HGNC:14347]

Gene Synonyms

FLJ20128

Location
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
BCAS3-202ENST00000407086.83517913aaENSP00000385323.2
 
Protein coding
CCDS11626Q9H6U6-2 NM_017679.5MANE Select v0.93Ensembl CanonicalGENCODE basicAPPRIS P3TSL:1
BCAS3-222ENST00000589222.53673928aaENSP00000466078.1
 
Protein coding
CCDS82177Q9H6U6-7 -GENCODE basicAPPRIS ALT2TSL:1
BCAS3-217ENST00000588462.53559950aaENSP00000468592.1
 
Protein coding
CCDS82176Q9H6U6-8 -GENCODE basicTSL:5
BCAS3-201ENST00000390652.93531928aaENSP00000375067.4
 
Protein coding
CCDS45749Q9H6U6-1 -GENCODE basicTSL:1
BCAS3-203ENST00000408905.73514935aaENSP00000386173.2
 
Protein coding
CCDS82178Q9H6U6-3 -GENCODE basicAPPRIS ALT2TSL:5
BCAS3-221ENST00000588874.52948684aaENSP00000464825.1
 
Protein coding
-Q9H6U6-6 -GENCODE basicAPPRIS ALT2TSL:2
BCAS3-204ENST00000585744.52203699aaENSP00000468682.1
 
Protein coding
-K7ESE9 -GENCODE basicTSL:5
BCAS3-209ENST00000586484.1747184aaENSP00000466552.1
 
Protein coding
-K7EML5 -TSL:5CDS 3' incomplete
BCAS3-224ENST00000590128.5633178aaENSP00000465175.1
 
Protein coding
-K7EJH7 -TSL:3CDS 3' incomplete
BCAS3-210ENST00000586705.5562145aaENSP00000465539.1
 
Protein coding
-K7EKB0 -TSL:4CDS 3' incomplete
BCAS3-211ENST00000587002.1550183aaENSP00000464711.1
 
Protein coding
-K7EIE2 -TSL:3CDS 5' and 3' incomplete
BCAS3-216ENST00000588168.5545135aaENSP00000465328.1
 
Protein coding
-K7EJU7 -TSL:5CDS 3' incomplete
BCAS3-233ENST00000626960.222753aaENSP00000486318.1
 
Protein coding
-K7EQA6 -GENCODE basicTSL:5
BCAS3-234ENST00000639611.110836aaENSP00000492306.1
 
Protein coding
-K7EIR7 -GENCODE basicTSL:5
BCAS3-231ENST00000592848.591853aaENSP00000467743.1
 
Nonsense mediated decay
-K7EQA6 -TSL:5
BCAS3-218ENST00000588532.559453aaENSP00000465441.1
 
Nonsense mediated decay
-K7EQA6 -TSL:5
BCAS3-226ENST00000591147.559056aaENSP00000466075.1
 
Nonsense mediated decay
-K7ELH0 -TSL:3
BCAS3-208ENST00000586241.155836aaENSP00000464864.1
 
Nonsense mediated decay
-K7EIR7 -TSL:5
BCAS3-205ENST00000585812.52214No protein-
 
Processed transcript
---TSL:2
BCAS3-229ENST00000592702.52094No protein-
 
Processed transcript
---TSL:1
BCAS3-213ENST00000587294.5937No protein-
 
Processed transcript
---TSL:5
BCAS3-206ENST00000585979.5919No protein-
 
Processed transcript
---TSL:5
BCAS3-219ENST00000588569.1875No protein-
 
Processed transcript
---TSL:3
BCAS3-225ENST00000590352.1586No protein-
 
Processed transcript
---TSL:4
BCAS3-232ENST00000593004.5572No protein-
 
Processed transcript
---TSL:4
BCAS3-228ENST00000592393.5569No protein-
 
Processed transcript
---TSL:5
BCAS3-230ENST00000592827.1569No protein-
 
Processed transcript
---TSL:4
BCAS3-212ENST00000587037.5552No protein-
 
Processed transcript
---TSL:5
BCAS3-207ENST00000586041.1542No protein-
 
Processed transcript
---TSL:5
BCAS3-227ENST00000591371.5527No protein-
 
Processed transcript
---TSL:5
BCAS3-215ENST00000588008.1411No protein-
 
Processed transcript
---TSL:3
BCAS3-220ENST00000588720.14556No protein-
 
Retained intron
---TSL:NA
BCAS3-214ENST00000587872.12743No protein-
 
Retained intron
---TSL:NA
BCAS3-223ENST00000589916.5546No protein-
 
Retained intron
---TSL:2
Description

sec1 family domain containing 1 [Source:HGNC Symbol;Acc:HGNC:20726]

Gene Synonyms

C14orf163, KIAA0917, RA410, SLY1, STXBP1L2

Location
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
SCFD1-203ENST00000458591.72190642aaENSP00000390783.2
 
Protein coding
CCDS9639Q8WVM8-1 NM_016106.4MANE Select v0.93Ensembl CanonicalGENCODE basicAPPRIS P2TSL:1
SCFD1-252ENST00000678124.14041575aaENSP00000503029.1
 
Protein coding
CCDS45092--GENCODE basic
SCFD1-207ENST00000544052.62058575aaENSP00000443010.2
 
Protein coding
CCDS45092Q8WVM8-3 -GENCODE basicTSL:2
SCFD1-202ENST00000396629.62021550aaENSP00000379870.2
 
Protein coding
CCDS58308Q8WVM8-2 -GENCODE basicTSL:2
SCFD1-205ENST00000469043.24736289aaENSP00000452448.2
 
Protein coding
-H0YJY1 -GENCODE basicTSL:2
SCFD1-241ENST00000677413.13486572aaENSP00000503070.1
 
Protein coding
---GENCODE basic
SCFD1-231ENST00000676812.13446612aaENSP00000504504.1
 
Protein coding
---GENCODE basic
SCFD1-256ENST00000678402.13424601aaENSP00000503444.1
 
Protein coding
---GENCODE basic
SCFD1-261ENST00000678669.13386592aaENSP00000504126.1
 
Protein coding
---GENCODE basic
SCFD1-227ENST00000676520.13374483aaENSP00000504658.1
 
Protein coding
---GENCODE basic
SCFD1-262ENST00000678716.13296483aaENSP00000503125.1
 
Protein coding
---GENCODE basic
SCFD1-259ENST00000678579.13260453aaENSP00000503776.1
 
Protein coding
---GENCODE basic
SCFD1-229ENST00000676674.13156457aaENSP00000502860.1
 
Protein coding
-B7Z5N7 -GENCODE basic
SCFD1-240ENST00000677340.12171616aaENSP00000504124.1
 
Protein coding
---GENCODE basic
SCFD1-226ENST00000676509.12126641aaENSP00000504739.1
 
Protein coding
---GENCODE basicAPPRIS ALT2
SCFD1-228ENST00000676658.11995620aaENSP00000503347.1
 
Protein coding
---GENCODE basic
SCFD1-271ENST00000679165.11962591aaENSP00000503787.1
 
Protein coding
---GENCODE basic
SCFD1-222ENST00000557076.61729513aaENSP00000450755.2
 
Protein coding
-G3V2M8 -GENCODE basicTSL:3
SCFD1-236ENST00000676954.11580291aaENSP00000504250.1
 
Protein coding
---GENCODE basic
SCFD1-210ENST00000553693.61538410aaENSP00000452308.2
 
Protein coding
-G3V5E2 -GENCODE basicTSL:3
SCFD1-267ENST00000679075.14347216aaENSP00000504582.1
 
Nonsense mediated decay
----
SCFD1-268ENST00000679096.13919448aaENSP00000503433.1
 
Nonsense mediated decay
----
SCFD1-225ENST00000676473.13589149aaENSP00000504489.1
 
Nonsense mediated decay
----
SCFD1-249ENST00000677974.13550108aaENSP00000503716.1
 
Nonsense mediated decay
----
SCFD1-234ENST00000676876.1344585aaENSP00000503666.1
 
Nonsense mediated decay
----
SCFD1-224ENST00000676465.1340638aaENSP00000503575.1
 
Nonsense mediated decay
----
SCFD1-247ENST00000677690.1327054aaENSP00000504114.1
 
Nonsense mediated decay
----
SCFD1-206ENST00000484733.6230855aaENSP00000452178.1
 
Nonsense mediated decay
-G3V551 -TSL:5
SCFD1-264ENST00000678760.12249422aaENSP00000504309.1
 
Nonsense mediated decay
----
SCFD1-246ENST00000677637.12138271aaENSP00000504375.1
 
Nonsense mediated decay
----
SCFD1-211ENST00000554437.62135465aaENSP00000450546.2
 
Nonsense mediated decay
-H0YIZ7 -TSL:3
SCFD1-238ENST00000677176.12135271aaENSP00000504074.1
 
Nonsense mediated decay
----
SCFD1-257ENST00000678475.12122369aaENSP00000504339.1
 
Nonsense mediated decay
----
SCFD1-254ENST00000678396.12105105aaENSP00000503724.1
 
Nonsense mediated decay
----
SCFD1-243ENST00000677456.12069271aaENSP00000503191.1
 
Nonsense mediated decay
----
SCFD1-255ENST00000678399.12062532aaENSP00000504310.1
 
Nonsense mediated decay
----
SCFD1-269ENST00000679102.12049487aaENSP00000503287.1
 
Nonsense mediated decay
----
SCFD1-201ENST00000311943.112016163aaENSP00000309417.7
 
Nonsense mediated decay
-J3KNG4 -TSL:2
SCFD1-233ENST00000676834.11970420aaENSP00000503338.1
 
Nonsense mediated decay
----
SCFD1-204ENST00000463622.6194348aaENSP00000451298.1
 
Nonsense mediated decay
-G3V3K9 -TSL:2
SCFD1-272ENST00000679342.11923271aaENSP00000504420.1
 
Nonsense mediated decay
----
SCFD1-235ENST00000676914.11870420aaENSP00000504271.1
 
Nonsense mediated decay
----
SCFD1-221ENST00000556768.5182975aaENSP00000451811.1
 
Nonsense mediated decay
-G3V4I1 -TSL:1
SCFD1-215ENST00000555259.51553121aaENSP00000452323.1
 
Nonsense mediated decay
-G3V5F3 -TSL:1
SCFD1-213ENST00000554776.5583102aaENSP00000452046.1
 
Nonsense mediated decay
-H0YJS6 -TSL:5CDS 5' incomplete
SCFD1-223ENST00000557713.555692aaENSP00000451064.1
 
Nonsense mediated decay
-G3V363 -TSL:4
SCFD1-212ENST00000554486.1819No protein-
 
Processed transcript
---TSL:3
SCFD1-214ENST00000554819.5608No protein-
 
Processed transcript
---TSL:5
SCFD1-260ENST00000678637.15328No protein-
 
Retained intron
----
SCFD1-237ENST00000677027.14584No protein-
 
Retained intron
----
SCFD1-258ENST00000678516.14241No protein-
 
Retained intron
----
SCFD1-270ENST00000679153.14175No protein-
 
Retained intron
----
SCFD1-265ENST00000678802.14171No protein-
 
Retained intron
----
SCFD1-266ENST00000678858.14154No protein-
 
Retained intron
----
SCFD1-245ENST00000677617.14125No protein-
 
Retained intron
----
SCFD1-263ENST00000678735.14025No protein-
 
Retained intron
----
SCFD1-239ENST00000677334.13857No protein-
 
Retained intron
----
SCFD1-253ENST00000678185.13312No protein-
 
Retained intron
----
SCFD1-230ENST00000676750.12705No protein-
 
Retained intron
----
SCFD1-250ENST00000678006.12372No protein-
 
Retained intron
----
SCFD1-232ENST00000676817.12358No protein-
 
Retained intron
----
SCFD1-244ENST00000677576.12147No protein-
 
Retained intron
----
SCFD1-251ENST00000678104.12025No protein-
 
Retained intron
----
SCFD1-248ENST00000677833.11813No protein-
 
Retained intron
----
SCFD1-242ENST00000677445.11470No protein-
 
Retained intron
----
SCFD1-219ENST00000556486.5974No protein-
 
Retained intron
---TSL:2
SCFD1-220ENST00000556534.1864No protein-
 
Retained intron
---TSL:5
SCFD1-208ENST00000553278.1795No protein-
 
Retained intron
---TSL:2
SCFD1-209ENST00000553280.1574No protein-
 
Retained intron
---TSL:2
SCFD1-216ENST00000555550.1541No protein-
 
Retained intron
---TSL:4
SCFD1-218ENST00000556413.1512No protein-
 
Retained intron
---TSL:3
SCFD1-217ENST00000556256.1428No protein-
 
Retained intron
---TSL:2
Statistics

Exons: 15, Coding exons: 0, Transcript length: 2,372 bps,

Version

ENST00000678006.1

Type

Retained intron

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Annotation Attributes

RNA-Seq supported only [Definitions]

Transcript-based displays

    HASH(0x2fa817f0)