Reactome | STRA6 T321P [plasma membrane]

STRA6 T321P [plasma membrane]

Stable Identifier

R-HSA-2453821

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

Stimulated by retinoic acid gene 6 protein homolog, STRA6_HUMAN, STRA6 Thr321Pro

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Disease (Homo sapiens)

- Diseases of the neuronal system (Homo sapiens)
  - Diseases associated with visual transduction (Homo sapiens)
    - Retinoid cycle disease events (Homo sapiens)
      - Defective visual phototransduction due to STRA6 loss of function (Homo sapiens)
        
        Defective STRA6 does not transport atROL (Homo sapiens)
        
        TTR:RBP4:atROL:STRA6 mutants [plasma membrane] (Homo sapiens)
        
        STRA6 mutants [plasma membrane] (Homo sapiens)
        
        STRA6 T321P [plasma membrane] (Homo sapiens)

External Reference Information

External Reference

UniProt:Q9BX79 STRA6

Gene Names

STRA6, PP14296, UNQ3126/PRO10282/PRO19578

Chain

chain:1-667

Reference Genes

BioGPS Gene:64220 STRA6

COSMIC (genes):STRA6 STRA6

CTD Gene:64220 STRA6

dbSNP Gene:64220 STRA6

ENSEMBL:ENSG00000137868 STRA6

ENSEMBL_homo_sapiens_GENE:ENSG00000137868.19 STRA6

ENSEMBL_homo_sapiens_GENE:ENSG00000288257.1 STRA6

HGNC:30650 STRA6

KEGG Gene (Homo sapiens):64220 STRA6

Monarch:64220 STRA6

NCBI Gene:64220 STRA6

OMIM:610745 STRA6

UCSC:Q9BX79 STRA6

Reference Transcript

Other Identifiers

11732938_at

11733686_a_at

11733687_s_at

11749698_a_at

1569334_PM_at

1569334_at

1569335_PM_a_at

1569335_a_at

16811583

221701_PM_s_at

221701_s_at

3632805

3632807

3632808

3632810

3632811

3632812

3632813

3632814

3632815

3632816

3632820

3632822

3632823

3632824

3632825

3632826

3632827

3632828

3632830

3632831

3632833

3632834

3632835

3632837

3632839

3632840

3632841

3632843

3632844

43546_at

64220

7990309

A_19_P00317939

A_23_P65779

A_33_P3307495

GE88520

GO:0001568

GO:0001822

GO:0003184

GO:0003281

GO:0005215

GO:0005515

GO:0005886

GO:0007507

GO:0007612

GO:0007631

GO:0008289

GO:0016020

GO:0016918

GO:0019841

GO:0022414

GO:0030324

GO:0030325

GO:0030540

GO:0032991

GO:0034632

GO:0034633

GO:0038023

GO:0042297

GO:0043010

GO:0043583

GO:0043585

GO:0048286

GO:0048520

GO:0048546

GO:0048566

GO:0048589

GO:0048745

GO:0048844

GO:0048856

GO:0050877

GO:0050890

GO:0050905

GO:0055085

GO:0060089

GO:0060322

GO:0060323

GO:0060325

GO:0060426

GO:0060539

GO:0060900

GO:0061029

GO:0061038

GO:0061143

GO:0061156

GO:0061205

GO:0071939

GO:0097070

HMNXSV003000574

HMNXSV003014271

Hs2.156362.1.S1_3p_s_at

ILMN_1807652

PH_hs_0002155

TC15001641.hg

g13560965_3p_s_at

Participates

as a member of

STRA6 mutants [plasma membrane] (Homo sapiens)

Other forms of this molecule

STRA6 W23* [plasma membrane]

STRA6 P90L [plasma membrane]

STRA6 P293L [plasma membrane]

STRA6 T644M [plasma membrane]

STRA6 R655C [plasma membrane]

STRA6 [plasma membrane]

Modified Residues

Name

L-threonine 321 replaced with L-proline

Coordinate

321

PsiMod

L-threonine removal [MOD:01647]

A protein modification that effectively removes or replaces an L-threonine.

L-proline residue [MOD:00024]

A protein modification that effectively converts a source amino acid residue to L-proline.

Disease

Name	Identifier	Synonyms
microphthalmia	DOID:10629	simple microphthalmos, nanophthalmia, microphthalmos, nanophthalmos

Cross References

RefSeq

XP_011520185.1, NP_001136089.1, NP_001185970.1, NP_001136091.1, NP_001185971.1, NP_001136092.1, NP_071764.3, NP_001136090.1, NP_001185969.1, XP_016877968.1

OpenTargets

ENSG00000137868

GeneCards

Q9BX79

HPA

ENSG00000137868-STRA6

Ensembl

ENST00000563965, ENST00000535552, ENSP00000326085, ENSG00000288257, ENSP00000410221, ENST00000673519, ENSP00000456609, ENSP00000458827, ENST00000432245, ENST00000672836, ENST00000673241, ENSP00000440238, ENSP00000407176, ENST00000616000, ENSP00000500590, ENSP00000413012, ENST00000323940, ENST00000672584, ENST00000672526, ENST00000672446, ENST00000395105, ENSP00000500241, ENSP00000499915, ENSP00000500334, ENSP00000500335, ENSP00000479112, ENSG00000137868, ENSP00000378537, ENST00000673026, ENST00000574278, ENSP00000500033, ENSP00000499866, ENST00000423167, ENST00000673039, ENST00000673414, ENSP00000499878, ENSP00000500345, ENST00000449139

PRO

Q9BX79

Pharos - Targets

Q9BX79

Orphanet

16806