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SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like [ Homo sapiens (human) ]

Gene ID: 23384, updated on 19-Sep-2021

Summary

Official Symbol
SPECC1Lprovided by HGNC
Official Full Name
sperm antigen with calponin homology and coiled-coil domains 1 likeprovided by HGNC
Primary source
HGNC:HGNC:29022
See related
Ensembl:ENSG00000100014 MIM:614140
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TBHS; CYTSA; GBBB2; OBLFC1
Summary
This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]
Expression
Ubiquitous expression in testis (RPKM 21.3), thyroid (RPKM 13.1) and 25 other tissues See more
Orthologs
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Genomic context

See SPECC1L in Genome Data Viewer
Location:
22q11.23
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (24270831..24417738)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24666799..24813706)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene SPECC1L-ADORA2A readthrough (NMD candidate) Neighboring gene POM121 transmembrane nucleoporin like 9, pseudogene Neighboring gene BCR pseudogene 1 Neighboring gene ribosomal protein S10 pseudogene 29 Neighboring gene uncharacterized LOC105372960 Neighboring gene ADORA2A antisense RNA 1 Neighboring gene adenosine A2a receptor Neighboring gene beta-ureidopropionase 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
GeneReviews: Not available
Hypertelorism, Teebi type
MedGen: C0796179 OMIM: 145420 GeneReviews: Not available
Compare labs
Oculomaxillofacial dysostosis
MedGen: C1838348 OMIM: 600251 GeneReviews: Not available
Compare labs
Opitz GBBB syndrome, type II
MedGen: C1801950 OMIM: 145410 GeneReviews: 22q11.2 Deletion Syndrome
Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough SPECC1L-ADORA2A

Readthrough gene: SPECC1L-ADORA2A, Included gene: ADORA2A

Homology

Clone Names

  • KIAA0376

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in cell division IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
part_of filamentous actin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in gap junction IEA
Inferred from Electronic Annotation
more info
 
is_active_in microtubule organizing center IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in spindle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cytospin-A
Names
SPECC1-like protein
cytokinesis and spindle organization A
renal carcinoma antigen NY-REN-22

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031915.2 RefSeqGene

    Range
    4996..151919
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145468.4NP_001138940.4  cytospin-A isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AP000354, AP000355, KC877946
    Consensus CDS
    CCDS33619.1
    Related
    ENSP00000393363.1, ENST00000437398.5
    Conserved Domains (4) summary
    PHA03247
    Location:827992
    PHA03247; large tegument protein UL36; Provisional
    COG1196
    Location:500801
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam12128
    Location:176803
    DUF3584; Protein of unknown function (DUF3584)
    cd21199
    Location:10051116
    CH_CYTS; calponin homology (CH) domain found in the cytospin family
  2. NM_001254732.3NP_001241661.3  cytospin-A isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AP000354, AP000355, KC877946
    Consensus CDS
    CCDS58797.1
    Related
    ENSP00000439633.1, ENST00000541492.1
    Conserved Domains (4) summary
    PHA03247
    Location:827992
    PHA03247; large tegument protein UL36; Provisional
    COG1196
    Location:500801
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam12128
    Location:176803
    DUF3584; Protein of unknown function (DUF3584)
    cl00030
    Location:9991078
    CH_SF; calponin homology (CH) domain superfamily
  3. NM_001254733.2NP_001241662.2  cytospin-A isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AP000354, AP000355
    Conserved Domains (1) summary
    cd21199
    Location:71182
    CH_CYTS; calponin homology (CH) domain found in the cytospin family
  4. NM_015330.6NP_056145.5  cytospin-A isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AL832425, AP000354, BC013085, BC021132, BM126792, HY105216
    Consensus CDS
    CCDS33619.1
    Related
    ENSP00000325785.8, ENST00000314328.14
    Conserved Domains (4) summary
    PHA03247
    Location:827992
    PHA03247; large tegument protein UL36; Provisional
    COG1196
    Location:500801
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam12128
    Location:176803
    DUF3584; Protein of unknown function (DUF3584)
    cd21199
    Location:10051116
    CH_CYTS; calponin homology (CH) domain found in the cytospin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    24270831..24417738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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