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Protein basic information

LiverAtlas Protein ID

HuLPr21657

Uniprot ID

F134B_HUMAN

Uniprot Acc

Q9H6L5;Q69YN8;Q9H6K6;Q9H764;Q9NXM8;

Protein name

Protein FAM134B

Comment

FUNCTION:Required for long-term survival of nociceptive and autonomic ganglion neurons.||SUBCELLULAR LOCATION:Golgi apparatus, cis-Golgi network membrane; Multi-pass membrane protein (By similarity).||ALTERNATIVE PRODUCTS:Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H6L5-1; Sequence=Displayed; Name=2; IsoId=Q9H6L5-2; Sequence=VSP 025685, VSP 025686;||DISEASE:Defects in FAM134B are the cause of hereditary sensory and autonomic neuropathy type 2B (HSAN2B) [MIM:613115]. A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2B is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation. Onset occurs in the first or second decade, with impaired nociception and progressive mutilating ulceration of the hands and feet with osteomyelitis and acr

Subcellular localization

Golgi apparatus, cis-Golgi network membrane;Multi-pass membrane protein(By similarity).

Gene name

family with sequence similarity 134, member B

Protein sequence

MASPAPPEHAEEGCPAPAAEEQAPPSPPPPQASPAERQQQ EEEAQEAGAAEGAGLQVEEAAGRAAAAVTWLLGEPVLWL GCRADELLSWKRPLRSLLGFVAANLLFWFLALTPWRVYH LISVMILGRVIMQIIKDMVLSRTRGAQLWRSLSESWEVI NSKPDERPRLSHCIAESWMNFSIFLQEMSLFKQQSPGKF CLLVCSVCTFFTILGSYIPGVILSYLLLLCAFLCPLFKC NDIGQKIYSKIKSVLLKLDFGIGEYINQKKRERSEADKE KSHKDDSELDFSALCPKISLTVAAKELSVSDTDVSEVSW TDNGTFNLSEGYTPQTDTSDDLDRPSEEVFSRDLSDFPS LENGMGTNDEDELSLGLPTELKRKKEQLDSGHRPSKETQ SAAGLTLPLNSDQTFHLMSNLAGDVITAAVTAAIKDQLE GVQQALSQAAPIPEEDTDTEEGDDFELLDQSELDQIESE LGLTQDQEAEAQQNKKSSGFLSNLLGGH

Database cross reference

RefSeq Protein accession:NP_001030022
RefSeq Protein gi:77917617

Liver relevance

HLPP validation

Yes/No

Yes

Project name

Human Liver Organelles;

Ontology annotation

GO-C

GO:0005801;C:cis-Golgi network;ISS:UniProtKB. GO:0005783;C:endoplasmic reticulum;IEA:InterPro. GO:0016021;C:integral to membrane;IEA:UniProtKB-KW.

GO-P

GO:0019233;P:sensory perception of pain;IMP:UniProtKB.