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KIDINS220 kinase D interacting substrate 220 [ Homo sapiens (human) ]

Gene ID: 57498, updated on 11-Sep-2021

Summary

Official Symbol
KIDINS220provided by HGNC
Official Full Name
kinase D interacting substrate 220provided by HGNC
Primary source
HGNC:HGNC:29508
See related
Ensembl:ENSG00000134313 MIM:615759
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
ARMS; SINO; VENARG
Summary
This gene encodes a transmembrane protein that is preferentially expressed in the nervous system where it controls neuronal cell survival, differentiation into exons and dendrites, and synaptic plasticity. The encoded protein interacts with membrane receptors, cytosolic signaling components, and cytoskeletal proteins, serving as a scaffold that mediates crosstalk between the neurotrophin pathway and several other intracellular signaling pathways. Aberrant expression of this gene is associated with the onset of various neuropsychiatric disorders and neurodegenerative diseases, including Alzheimer's disease. Naturally occurring mutations in this gene are associated with a syndrome characterized by spastic paraplegia, intellectual disability, nystagmus and obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Expression
Ubiquitous expression in brain (RPKM 28.9), ovary (RPKM 19.1) and 25 other tissues See more
Orthologs
NEW
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Genomic context

See KIDINS220 in Genome Data Viewer
Location:
2p25.1
Exon count:
35
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (8721081..8837613, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (8861211..8977743, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985849 Neighboring gene inhibitor of DNA binding 2 Neighboring gene ADP ribosylation factor like GTPase 1 pseudogene Neighboring gene membrane bound O-acyltransferase domain containing 2 Neighboring gene high mobility group box 1 pseudogene 25

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
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
GeneReviews: Not available
Spastic paraplegia, intellectual disability, nystagmus, and obesity
MedGen: C4284592 OMIM: 617296 GeneReviews: Not available
Compare labs
VENTRICULOMEGALY AND ARTHROGRYPOSIS
MedGen: CN300393 OMIM: 619501 GeneReviews: Not available
not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Depletion of ARMS abrogates HIV-1 Tat-induced upregulation of CD40 expression in primary human microglia PubMed
tat Depletion of ARMS inhibits HIV-1 Tat-induced NF-kappaB activation including IkappaBalpha degradation, RelA nuclear accumulation, and RelB expression PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37202, MGC163482

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables PDZ domain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables PDZ domain binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein kinase regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular response to nerve growth factor stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in dendrite morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in nerve growth factor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in nerve growth factor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in late endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in membrane HDA PubMed 
part_of protein-containing complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
kinase D-interacting substrate of 220 kDa
Names
ankyrin repeat-rich membrane-spanning protein
kinase D-interacting substrate 220kDa

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_053168.1 RefSeqGene

    Range
    5001..113783
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001348729.2NP_001335658.1  kinase D-interacting substrate of 220 kDa isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is longer than isoform 1.
    Source sequence(s)
    AC012495
    Conserved Domains (4) summary
    cd00204
    Location:32191
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam07693
    Location:441954
    KAP_NTPase; KAP family P-loop domain
    sd00045
    Location:3868
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:338389
    Ank_4; Ankyrin repeats (many copies)
  2. NM_001348731.2NP_001335660.1  kinase D-interacting substrate of 220 kDa isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AC012495
    Conserved Domains (4) summary
    cd00204
    Location:32191
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam07693
    Location:441954
    KAP_NTPase; KAP family P-loop domain
    sd00045
    Location:3868
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:338389
    Ank_4; Ankyrin repeats (many copies)
  3. NM_001348732.2NP_001335661.1  kinase D-interacting substrate of 220 kDa isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AC012495
    Consensus CDS
    CCDS86818.1
    Related
    ENSP00000418974.1, ENST00000473731.5
    Conserved Domains (4) summary
    cd00204
    Location:32190
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam07693
    Location:440953
    KAP_NTPase; KAP family P-loop domain
    sd00045
    Location:3868
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:337388
    Ank_4; Ankyrin repeats (many copies)
  4. NM_001348734.2NP_001335663.1  kinase D-interacting substrate of 220 kDa isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 5' coding region and lacks two alternate in-frame exons in the 3' coding region, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
    Source sequence(s)
    AC012495
    Conserved Domains (4) summary
    cd00204
    Location:32191
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam07693
    Location:441954
    KAP_NTPase; KAP family P-loop domain
    sd00045
    Location:3868
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:338389
    Ank_4; Ankyrin repeats (many copies)
  5. NM_001348735.2NP_001335664.1  kinase D-interacting substrate of 220 kDa isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks two alternate in-frame exons in the 3' coding region, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.
    Source sequence(s)
    AC012495
    Conserved Domains (4) summary
    cd00204
    Location:32190
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam07693
    Location:440953
    KAP_NTPase; KAP family P-loop domain
    sd00045
    Location:3868
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:337388
    Ank_4; Ankyrin repeats (many copies)
  6. NM_001348736.2NP_001335665.1  kinase D-interacting substrate of 220 kDa isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, lacks two alternate in-frame exons in the 3' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (7) is shorter than isoform 1.
    Source sequence(s)
    AC012495
    Conserved Domains (5) summary
    cd00204
    Location:122247
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam07693
    Location:398911
    KAP_NTPase; KAP family P-loop domain
    sd00045
    Location:2859
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:295346
    Ank_4; Ankyrin repeats (many copies)
    pfam13857
    Location:133
    Ank_5; Ankyrin repeats (many copies)
  7. NM_001348738.2NP_001335667.1  kinase D-interacting substrate of 220 kDa isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) has multiple coding region differences and differs in the 3' UTR, compared to variant 1. The encoded isoform (8) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC011747, AC012495, AK094521
    Conserved Domains (4) summary
    cd00204
    Location:32190
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam07693
    Location:440953
    KAP_NTPase; KAP family P-loop domain
    sd00045
    Location:3868
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:337388
    Ank_4; Ankyrin repeats (many copies)
  8. NM_001348739.2NP_001335668.1  kinase D-interacting substrate of 220 kDa isoform 9

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) has multiple coding region differences and differs in the 3' UTR, compared to variant 1. The encoded isoform (9) is shorter and has a distinct C-terminus, compared to isoform 1. Both variants 9 and 10 encode the same isoform (9).
    Source sequence(s)
    AC011747, AC012495, AK094521
    Conserved Domains (4) summary
    cd00204
    Location:32191
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam07693
    Location:441954
    KAP_NTPase; KAP family P-loop domain
    sd00045
    Location:3868
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:338389
    Ank_4; Ankyrin repeats (many copies)
  9. NM_001348740.2NP_001335669.1  kinase D-interacting substrate of 220 kDa isoform 9

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) has multiple coding region differences and differs in the 3' UTR, compared to variant 1. The encoded isoform (10) is shorter and has a distinct C-terminus, compared to isoform 1. Both variants 9 and 10 encode the same isoform (9).
    Source sequence(s)
    AC011747, AC012495, AK094521
    Related
    ENSP00000419964.1, ENST00000489024.5
    Conserved Domains (4) summary
    cd00204
    Location:32191
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam07693
    Location:441954
    KAP_NTPase; KAP family P-loop domain
    sd00045
    Location:3868
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:338389
    Ank_4; Ankyrin repeats (many copies)
  10. NM_001348741.2NP_001335670.1  kinase D-interacting substrate of 220 kDa isoform 10

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) has multiple coding region differences and differs in the 3' UTR, compared to variant 1. The encoded isoform (11) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 11-13 encode the same isoform (10).
    Source sequence(s)
    AC011747, AC012495, AK094521
    Related
    ENSP00000491461.1, ENST00000569008.2
    Conserved Domains (4) summary
    cd00204
    Location:32190
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam07693
    Location:440953
    KAP_NTPase; KAP family P-loop domain
    sd00045
    Location:3868
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:337388
    Ank_4; Ankyrin repeats (many copies)
  11. NM_001348742.2NP_001335671.1  kinase D-interacting substrate of 220 kDa isoform 10

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) has multiple coding region differences and differs in the 3' UTR, compared to variant 1. The encoded isoform (12) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 11-13 encode the same isoform (10).
    Source sequence(s)
    AC011747, AC012495, AK094521
    Related
    ENSP00000420364.1, ENST00000496383.5
    Conserved Domains (4) summary
    cd00204
    Location:32190
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam07693
    Location:440953
    KAP_NTPase; KAP family P-loop domain
    sd00045
    Location:3868
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:337388
    Ank_4; Ankyrin repeats (many copies)
  12. NM_001348743.2NP_001335672.1  kinase D-interacting substrate of 220 kDa isoform 10

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) has multiple coding region differences and differs in the 3' UTR, compared to variant 1. The encoded isoform (13) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 11-13 encode the same isoform (10).
    Source sequence(s)
    AC011747, AC012495, AK094521
    Conserved Domains (4) summary
    cd00204
    Location:32190
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam07693
    Location:440953
    KAP_NTPase; KAP family P-loop domain
    sd00045
    Location:3868
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:337388
    Ank_4; Ankyrin repeats (many copies)
  13. NM_001348745.2NP_001335674.1  kinase D-interacting substrate of 220 kDa isoform 11

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) has multiple coding region differences and differs in the 3' UTR, compared to variant 1. The encoded isoform (11) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC012495, AL133620
    Consensus CDS
    CCDS86819.1
    Related
    ENSP00000319947.5, ENST00000319688.5
    Conserved Domains (5) summary
    cd00204
    Location:32191
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam07693
    Location:441954
    KAP_NTPase; KAP family P-loop domain
    sd00045
    Location:3868
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:338389
    Ank_4; Ankyrin repeats (many copies)
    cl21455
    Location:10101030
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  14. NM_020738.4NP_065789.1  kinase D-interacting substrate of 220 kDa isoform 1

    See identical proteins and their annotated locations for NP_065789.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC012495
    Consensus CDS
    CCDS42650.1
    UniProtKB/Swiss-Prot
    Q9ULH0
    Related
    ENSP00000256707.4, ENST00000256707.8
    Conserved Domains (5) summary
    cd00204
    Location:32190
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam07693
    Location:440953
    KAP_NTPase; KAP family P-loop domain
    pfam12796
    Location:42133
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:1358
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:3868
    ANK; ANK repeat [structural motif]

RNA

  1. NR_145964.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15) uses an alternate splice site in the 5' region and an alternate exon structure in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC011747, AC012495, AK094521
  2. NR_145965.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16) uses an alternate exon structure in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC011747, AC012495, AK094521

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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    8721081..8837613 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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