Seroatlas · Human Serome Atlas

OBSL1

Obscurin-like protein 1

Also known as: KIAA0657, OBSL1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O75147
Gene
OBSL1
Ensembl
ENSG00000124006
Chromosome
2
Canonical length
1896 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Centrosome

OverviewNCBI Gene

Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

1896 residues, UniProt reviewed canonical sequence.

>O75147|OBSL1
     1  MKASSGDQGS PPCFLRFPRP VRVVSGAEAE LKCVVLGEPP PVVVWEKGGQ QLAASERLSF
    61  PADGAEHGLL LTAALPTDAG VYVCRARNAA GEAYAAAAVT VLEPPASDPE LQPAERPLPS
   121  PGSGEGAPVF LTGPRSQWVL RGAEVVLTCR AGGLPEPTLY WEKDGMALDE VWDSSHFALQ
   181  PGRAEDGPGA SLALRILAAR LPDSGVYVCH ARNAHGHAQA GALLQVHQPP ESPPADPDEA
   241  PAPVVEPLKC APKTFWVNEG KHAKFRCYVM GKPEPEIEWH WEGRPLLPDR RRLMYRDRDG
   301  GFVLKVLYCQ AKDRGLYVCA ARNSAGQTLS AVQLHVKEPR LRFTRPLQDV EGREHGIAVL
   361  ECKVPNSRIP TAWFREDQRL LPCRKYEQIE EGTVRRLIIH RLKADDDGIY LCEMRGRVRT
   421  VANVTVKGPI LKRLPRKLDV LEGENAVLLV ETLEAGVEGR WSRDGEELPV ICQSSSGHMH
   481  ALVLPGVTRE DAGEVTFSLG NSRTTTLLRV KCVKHSPPGP PILAEMFKGH KNTVLLTWKP
   541  PEPAPETPFI YRLERQEVGS EDWIQCFSIE KAGAVEVPGD CVPSEGDYRF RICTVSGHGR
   601  SPHVVFHGSA HLVPTARLVA GLEDVQVYDG EDAVFSLDLS TIIQGTWFLN GEELKSNEPE
   661  GQVEPGALRY RIEQKGLQHR LILHAVKHQD SGALVGFSCP GVQDSAALTI QESPVHILSP
   721  QDRVSLTFTT SERVVLTCEL SRVDFPATWY KDGQKVEESE LLVVKMDGRK HRLILPEAKV
   781  QDSGEFECRT EGVSAFFGVT VQDPPVHIVD PREHVFVHAI TSECVMLACE VDREDAPVRW
   841  YKDGQEVEES DFVVLENEGP HRRLVLPATQ PSDGGEFQCV AGDECAYFTV TITDVSSWIV
   901  YPSGKVYVAA VRLERVVLTC ELCRPWAEVR WTKDGEEVVE SPALLLQKED TVRRLVLPAV
   961  QLEDSGEYLC EIDDESASFT VTVTEPPVRI IYPRDEVTLI AVTLECVVLM CELSREDAPV
  1021  RWYKDGLEVE ESEALVLERD GPRCRLVLPA AQPEDGGEFV CDAGDDSAFF TVTVTAPPER
  1081  IVHPAARSLD LHFGAPGRVE LRCEVAPAGS QVRWYKDGLE VEASDALQLG AEGPTRTLTL
  1141  PHAQPEDAGE YVCETRHEAI TFNVILAEPP VQFLALETTP SPLCVAPGEP VVLSCELSRA
  1201  GAPVVWSHNG RPVQEGEGLE LHAEGPRRVL CIQAAGPAHA GLYTCQSGAA PGAPSLSFTV
  1261  QVAEPPVRVV APEAAQTRVR STPGGDLELV VHLSGPGGPV RWYKDGERLA SQGRVQLEQA
  1321  GARQVLRVQG ARSGDAGEYL CDAPQDSRIF LVSVEEPLLV KLVSELTPLT VHEGDDATFR
  1381  CEVSPPDADV TWLRNGAVVT PGPQVEMAQN GSSRILTLRG CQLGDAGTVT LRAGSTATSA
  1441  RLHVRETELL FLRRLQDVRA EEGQDVCLEV ETGRVGAAGA VRWVRGGQPL PHDSRLSMAQ
  1501  DGHIHRLFIH GVILADQGTY GCESHHDRTL ARLSVRPRQL RVLRPLEDVT ISEGGSATFQ
  1561  LELSQEGVTG EWARGGVQLY PGPKCHIHSD GHRHRLVLNG LGLADSGCVS FTADSLRCAA
  1621  RLIVREVPVT IVRGPHDLEV TEGDTATFEC ELSQALADVT WEKDGNALTP SPRLRLQALG
  1681  TRRLLQLRRC GPSDAGTYSC AVGTARAGPV RLTVRERTVA VLSELRSVSA REGDGATFEC
  1741  TVSEVETTGR WELGGRPLRP GARVRIRQEG KKHILVLSEL RAEDAGEVRF QAGPAQSLAL
  1801  LEVEALPLQM CRHPPREKTV LVGRRAVLEV TVSRSGGHVC WLREGAELCP GDKYEMRSHG
  1861  PTHSLVIHDV RPEDQGTYCC QAGQDSTHTR LLVEGN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OBSL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
329 nTPM

Expression across tissuesHPA

Tissue

  • ovary: 329 nTPM
  • thyroid gland: 144 nTPM
  • pancreas: 116 nTPM
  • adrenal gland: 111 nTPM
  • kidney: 110 nTPM
  • heart muscle: 87 nTPM

Single-cell type

  • late spermatids: 2,929 nCPM
  • late primary spermatocytes: 1,806 nCPM
  • early spermatids: 1,009 nCPM
  • ovarian stromal cells: 158 nCPM
  • sertoli cells: 123 nCPM
  • syncytiotrophoblasts: 107 nCPM

Immune cell

  • basophil: 4.4 nTPM
  • plasmacytoid DC: 1.3 nTPM
  • neutrophil: 0.3 nTPM
  • non-classical monocyte: 0.2 nTPM
  • gdT-cell: 0.1 nTPM
  • memory CD4 T-cell: 0.1 nTPM

Brain region

  • choroid plexus: 71 nTPM
  • medulla oblongata: 62 nTPM
  • thalamus: 61 nTPM
  • midbrain: 61 nTPM
  • hypothalamus: 57 nTPM
  • hippocampal formation: 53 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OBSL1.

Disease | AllUniProt

Conditions OBSL1 is implicated in, by any mechanism.

Disease | GeneticClinVar

79 pathogenic / likely-pathogenic of 1,453 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.88
gnomAD pLI
0
gnomAD missense Z
0.01
DepMap mean gene effect
-0.08
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of OBSL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads OBSL1 as an antibody target. Whether an autoantibody or antibody against OBSL1 could matter depends on whether native OBSL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

OBSL1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label OBSL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/OBSL1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...