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SSX2IP SSX family member 2 interacting protein [ Homo sapiens (human) ]

Gene ID: 117178, updated on 21-Dec-2019

Summary

Official Symbol
SSX2IPprovided by HGNC
Official Full Name
SSX family member 2 interacting proteinprovided by HGNC
Primary source
HGNC:HGNC:16509
See related
Ensembl:ENSG00000117155 MIM:608690
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
ADIP; hMsd1
Summary
This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. The encoded protein may regulate the activity of Synovial Sarcoma X breakpoint 2 protein in malignant cells. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Oct 2009]
Expression
Broad expression in testis (RPKM 29.1), duodenum (RPKM 14.3) and 19 other tissues See more
Orthologs

Genomic context

See SSX2IP in Genome Data Viewer
Location:
1p22.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (84643706..84690757, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (85109390..85156440, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene 40S ribosomal protein S27-like pseudogene Neighboring gene long intergenic non-protein coding RNA 1555 Neighboring gene uncharacterized LOC102724892 Neighboring gene lysophosphatidic acid receptor 3

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10848, KIAA0923, MGC75026

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
centrosome cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
intraciliary transport involved in cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of Rac protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of cell motility IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell leading edge IEA
Inferred from Electronic Annotation
more info
 
cell-cell adherens junction IEA
Inferred from Electronic Annotation
more info
 
centriolar satellite IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
afadin- and alpha-actinin-binding protein
Names
SSX2-interacting protein
afadin DIL domain-interacting protein
synovial sarcoma, X breakpoint 2 interacting protein

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001166293.2NP_001159765.1  afadin- and alpha-actinin-binding protein isoform 1

    See identical proteins and their annotated locations for NP_001159765.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 5 encode the same isoform (1).
    Source sequence(s)
    AB023140, AC114482
    Consensus CDS
    CCDS699.1
    UniProtKB/Swiss-Prot
    Q9Y2D8
    Related
    ENSP00000340279.3, ENST00000342203.7
    Conserved Domains (1) summary
    pfam11559
    Location:63214
    ADIP; Afadin- and alpha -actinin-Binding
  2. NM_001166294.2NP_001159766.1  afadin- and alpha-actinin-binding protein isoform 2

    See identical proteins and their annotated locations for NP_001159766.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Both variants 3 and 4 encode the same isoform (2).
    Source sequence(s)
    AB023140, AC114482, AK294057
    Consensus CDS
    CCDS53337.1
    UniProtKB/Swiss-Prot
    Q9Y2D8
    Related
    ENSP00000474480.1, ENST00000605755.5
    Conserved Domains (1) summary
    pfam11559
    Location:36187
    ADIP; Afadin- and alpha -actinin-Binding
  3. NM_001166295.1NP_001159767.1  afadin- and alpha-actinin-binding protein isoform 2

    See identical proteins and their annotated locations for NP_001159767.1

    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 start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Both variants 3 and 4 encode the same isoform (2).
    Source sequence(s)
    AB023140, AC114482, AK316472
    Consensus CDS
    CCDS53337.1
    UniProtKB/Swiss-Prot
    Q9Y2D8
    UniProtKB/TrEMBL
    B7ZB07
    Related
    ENSP00000412781.2, ENST00000437941.6
    Conserved Domains (1) summary
    pfam11559
    Location:36187
    ADIP; Afadin- and alpha -actinin-Binding
  4. NM_001166417.2NP_001159889.1  afadin- and alpha-actinin-binding protein isoform 1

    See identical proteins and their annotated locations for NP_001159889.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2 and 5 encode the same isoform (1).
    Source sequence(s)
    AB023140, AC114482, AY367055
    Consensus CDS
    CCDS699.1
    UniProtKB/Swiss-Prot
    Q9Y2D8
    Conserved Domains (1) summary
    pfam11559
    Location:63214
    ADIP; Afadin- and alpha -actinin-Binding
  5. NM_014021.4NP_054740.3  afadin- and alpha-actinin-binding protein isoform 1

    See identical proteins and their annotated locations for NP_054740.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 5 encode the same isoform (1).
    Source sequence(s)
    AB023140, AC114482, AL133046
    Consensus CDS
    CCDS699.1
    UniProtKB/Swiss-Prot
    Q9Y2D8
    Conserved Domains (1) summary
    pfam11559
    Location:63214
    ADIP; Afadin- and alpha -actinin-Binding

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    84643706..84690757 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270428.2XP_005270485.1  afadin- and alpha-actinin-binding protein isoform X1

    See identical proteins and their annotated locations for XP_005270485.1

    UniProtKB/Swiss-Prot
    Q9Y2D8
    Conserved Domains (1) summary
    pfam11559
    Location:63214
    ADIP; Afadin- and alpha -actinin-Binding
  2. XM_017000235.2XP_016855724.1  afadin- and alpha-actinin-binding protein isoform X2

    Conserved Domains (2) summary
    pfam11559
    Location:63214
    ADIP; Afadin- and alpha -actinin-Binding
    cl25732
    Location:110356
    SMC_N; RecF/RecN/SMC N terminal domain
  3. XM_024453015.1XP_024308783.1  afadin- and alpha-actinin-binding protein isoform X2

    Conserved Domains (2) summary
    pfam11559
    Location:63214
    ADIP; Afadin- and alpha -actinin-Binding
    cl25732
    Location:110356
    SMC_N; RecF/RecN/SMC N terminal domain
  4. XM_017000237.2XP_016855726.1  afadin- and alpha-actinin-binding protein isoform X4

  5. XM_005270429.2XP_005270486.1  afadin- and alpha-actinin-binding protein isoform X2

    See identical proteins and their annotated locations for XP_005270486.1

    Conserved Domains (2) summary
    pfam11559
    Location:63214
    ADIP; Afadin- and alpha -actinin-Binding
    cl25732
    Location:110356
    SMC_N; RecF/RecN/SMC N terminal domain
  6. XM_005270427.2XP_005270484.1  afadin- and alpha-actinin-binding protein isoform X1

    See identical proteins and their annotated locations for XP_005270484.1

    UniProtKB/Swiss-Prot
    Q9Y2D8
    Conserved Domains (1) summary
    pfam11559
    Location:63214
    ADIP; Afadin- and alpha -actinin-Binding
  7. XM_006710331.2XP_006710394.1  afadin- and alpha-actinin-binding protein isoform X3

    See identical proteins and their annotated locations for XP_006710394.1

    UniProtKB/Swiss-Prot
    Q9Y2D8
    Conserved Domains (1) summary
    pfam11559
    Location:36187
    ADIP; Afadin- and alpha -actinin-Binding
  8. XM_017000234.2XP_016855723.1  afadin- and alpha-actinin-binding protein isoform X1

    UniProtKB/Swiss-Prot
    Q9Y2D8
    Conserved Domains (1) summary
    pfam11559
    Location:63214
    ADIP; Afadin- and alpha -actinin-Binding
  9. XM_017000236.2XP_016855725.1  afadin- and alpha-actinin-binding protein isoform X2

    Conserved Domains (2) summary
    pfam11559
    Location:63214
    ADIP; Afadin- and alpha -actinin-Binding
    cl25732
    Location:110356
    SMC_N; RecF/RecN/SMC N terminal domain
  10. XM_024453018.1XP_024308786.1  afadin- and alpha-actinin-binding protein isoform X6

    Conserved Domains (2) summary
    pfam11559
    Location:63214
    ADIP; Afadin- and alpha -actinin-Binding
    cl25732
    Location:110356
    SMC_N; RecF/RecN/SMC N terminal domain
  11. XM_011540612.2XP_011538914.1  afadin- and alpha-actinin-binding protein isoform X5

    Related
    ENSP00000432261.1, ENST00000481102.5
    Conserved Domains (1) summary
    pfam11559
    Location:63214
    ADIP; Afadin- and alpha -actinin-Binding

RNA

  1. XR_946540.1 RNA Sequence

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