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CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 [ Homo sapiens (human) ]

Gene ID: 27151, updated on 24-Nov-2020

Summary

Official Symbol
CPAMD8provided by HGNC
Official Full Name
C3 and PZP like alpha-2-macroglobulin domain containing 8provided by HGNC
Primary source
HGNC:HGNC:23228
See related
Ensembl:ENSG00000160111 MIM:608841
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
VIP; ASGD8; K-CAP
Summary
This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017]
Expression
Biased expression in lung (RPKM 10.3), prostate (RPKM 7.9) and 12 other tissues See more
Orthologs

Genomic context

See CPAMD8 in Genome Data Viewer
Location:
19p13.11
Exon count:
43
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (16892951..17026818, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17003762..17137625, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene SIN3 transcription regulator family member B Neighboring gene RNA, 7SL, cytoplasmic 835, pseudogene Neighboring gene F2R like thrombin or trypsin receptor 3 Neighboring gene RNA, 7SL, cytoplasmic 823, pseudogene Neighboring gene HAUS augmin like complex subunit 8 Neighboring gene myosin IXB Neighboring gene small nucleolar RNA, H/ACA box 118

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
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
GeneReviews: Not available
Anterior segment dysgenesis 8
MedGen: C4310622 OMIM: 617319 GeneReviews: Not available
Compare labs
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42058, FLJ90618, KIAA1283

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular space IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8
Names
alpha-2 macroglobulin family protein VIP

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.

Genomic

  1. NG_054892.1 RefSeqGene

    Range
    5009..138868
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015692.5NP_056507.3  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the protein.
    Source sequence(s)
    AC008737, AC020908, AI670110, AY101765, BC067854, BF726092, BP302427
    Consensus CDS
    CCDS42519.1
    Related
    ENSP00000402505.3, ENST00000443236.6
    Conserved Domains (8) summary
    smart00280
    Location:17121744
    KAZAL; Kazal type serine protease inhibitors
    cd02897
    Location:11411429
    A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
    pfam00207
    Location:750841
    A2M; Alpha-2-macroglobulin family
    pfam01835
    Location:129221
    A2M_N; MG2 domain
    pfam07677
    Location:15691659
    A2M_recep; A-macroglobulin receptor
    pfam07703
    Location:455626
    A2M_N_2; Alpha-2-macroglobulin family N-terminal region
    pfam12248
    Location:9911086
    Methyltransf_FA; Farnesoic acid 0-methyl transferase
    cl26464
    Location:16401844
    Atrophin-1; Atrophin-1 family

RNA

  1. NR_147452.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses a downstream promoter compared to variant 1. This variant is represented as non-coding because it lacks an in-frame ORF.
    Source sequence(s)
    AC008737, AY101765, DA368557
    Related
    ENST00000596224.5
  2. NR_165644.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the protein.
    Source sequence(s)
    AC020908
    Related
    ENST00000291440.4

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    16892951..17026818 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527917.1XP_011526219.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X1

    Conserved Domains (8) summary
    smart00280
    Location:17471779
    KAZAL; Kazal type serine protease inhibitors
    cd02897
    Location:11761464
    A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
    pfam00207
    Location:785876
    A2M; Alpha-2-macroglobulin family
    pfam01835
    Location:164256
    A2M_N; MG2 domain
    pfam07677
    Location:16041694
    A2M_recep; A-macroglobulin receptor
    pfam07678
    Location:12171466
    A2M_comp; A-macroglobulin complement component
    pfam07703
    Location:492660
    A2M_N_2; Alpha-2-macroglobulin family N-terminal region
    pfam12248
    Location:10201121
    Methyltransf_FA; Farnesoic acid 0-methyl transferase
  2. XM_011527924.2XP_011526226.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X6

    See identical proteins and their annotated locations for XP_011526226.1

    Conserved Domains (8) summary
    smart00280
    Location:17591791
    KAZAL; Kazal type serine protease inhibitors
    cd02897
    Location:11881476
    A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
    pfam00207
    Location:797888
    A2M; Alpha-2-macroglobulin family
    pfam01835
    Location:176268
    A2M_N; MG2 domain
    pfam07677
    Location:16161706
    A2M_recep; A-macroglobulin receptor
    pfam07678
    Location:12291478
    A2M_comp; A-macroglobulin complement component
    pfam07703
    Location:504672
    A2M_N_2; Alpha-2-macroglobulin family N-terminal region
    pfam12248
    Location:10321133
    Methyltransf_FA; Farnesoic acid 0-methyl transferase
  3. XM_011527918.1XP_011526220.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X2

    Conserved Domains (8) summary
    smart00280
    Location:17591791
    KAZAL; Kazal type serine protease inhibitors
    cd02897
    Location:11881476
    A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
    pfam00207
    Location:797888
    A2M; Alpha-2-macroglobulin family
    pfam01835
    Location:176268
    A2M_N; MG2 domain
    pfam07677
    Location:16161706
    A2M_recep; A-macroglobulin receptor
    pfam07678
    Location:12291478
    A2M_comp; A-macroglobulin complement component
    pfam07703
    Location:504672
    A2M_N_2; Alpha-2-macroglobulin family N-terminal region
    pfam12248
    Location:10321133
    Methyltransf_FA; Farnesoic acid 0-methyl transferase
  4. XM_011527919.1XP_011526221.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X3

    Conserved Domains (8) summary
    smart00280
    Location:17591791
    KAZAL; Kazal type serine protease inhibitors
    cd02897
    Location:11881476
    A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
    pfam00207
    Location:797888
    A2M; Alpha-2-macroglobulin family
    pfam01835
    Location:176268
    A2M_N; MG2 domain
    pfam07677
    Location:16161706
    A2M_recep; A-macroglobulin receptor
    pfam07678
    Location:12291478
    A2M_comp; A-macroglobulin complement component
    pfam07703
    Location:504672
    A2M_N_2; Alpha-2-macroglobulin family N-terminal region
    pfam12248
    Location:10321133
    Methyltransf_FA; Farnesoic acid 0-methyl transferase
  5. XM_011527920.2XP_011526222.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X4

    Conserved Domains (8) summary
    smart00280
    Location:17591791
    KAZAL; Kazal type serine protease inhibitors
    cd02897
    Location:11881476
    A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
    pfam00207
    Location:797888
    A2M; Alpha-2-macroglobulin family
    pfam01835
    Location:176268
    A2M_N; MG2 domain
    pfam07677
    Location:16161706
    A2M_recep; A-macroglobulin receptor
    pfam07678
    Location:12291478
    A2M_comp; A-macroglobulin complement component
    pfam07703
    Location:504672
    A2M_N_2; Alpha-2-macroglobulin family N-terminal region
    pfam12248
    Location:10321133
    Methyltransf_FA; Farnesoic acid 0-methyl transferase
  6. XM_011527925.1XP_011526227.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X7

    Conserved Domains (6) summary
    smart00280
    Location:10161048
    KAZAL; Kazal type serine protease inhibitors
    cd02897
    Location:445733
    A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
    pfam00207
    Location:54145
    A2M; Alpha-2-macroglobulin family
    pfam07677
    Location:873963
    A2M_recep; A-macroglobulin receptor
    pfam07678
    Location:486735
    A2M_comp; A-macroglobulin complement component
    pfam12248
    Location:289390
    Methyltransf_FA; Farnesoic acid 0-methyl transferase
  7. XM_011527922.1XP_011526224.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X6

    See identical proteins and their annotated locations for XP_011526224.1

    Conserved Domains (8) summary
    smart00280
    Location:17591791
    KAZAL; Kazal type serine protease inhibitors
    cd02897
    Location:11881476
    A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
    pfam00207
    Location:797888
    A2M; Alpha-2-macroglobulin family
    pfam01835
    Location:176268
    A2M_N; MG2 domain
    pfam07677
    Location:16161706
    A2M_recep; A-macroglobulin receptor
    pfam07678
    Location:12291478
    A2M_comp; A-macroglobulin complement component
    pfam07703
    Location:504672
    A2M_N_2; Alpha-2-macroglobulin family N-terminal region
    pfam12248
    Location:10321133
    Methyltransf_FA; Farnesoic acid 0-methyl transferase
  8. XM_011527923.1XP_011526225.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X6

    See identical proteins and their annotated locations for XP_011526225.1

    Conserved Domains (8) summary
    smart00280
    Location:17591791
    KAZAL; Kazal type serine protease inhibitors
    cd02897
    Location:11881476
    A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
    pfam00207
    Location:797888
    A2M; Alpha-2-macroglobulin family
    pfam01835
    Location:176268
    A2M_N; MG2 domain
    pfam07677
    Location:16161706
    A2M_recep; A-macroglobulin receptor
    pfam07678
    Location:12291478
    A2M_comp; A-macroglobulin complement component
    pfam07703
    Location:504672
    A2M_N_2; Alpha-2-macroglobulin family N-terminal region
    pfam12248
    Location:10321133
    Methyltransf_FA; Farnesoic acid 0-methyl transferase
  9. XM_011527921.3XP_011526223.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X6

    See identical proteins and their annotated locations for XP_011526223.1

    Conserved Domains (8) summary
    smart00280
    Location:17591791
    KAZAL; Kazal type serine protease inhibitors
    cd02897
    Location:11881476
    A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
    pfam00207
    Location:797888
    A2M; Alpha-2-macroglobulin family
    pfam01835
    Location:176268
    A2M_N; MG2 domain
    pfam07677
    Location:16161706
    A2M_recep; A-macroglobulin receptor
    pfam07678
    Location:12291478
    A2M_comp; A-macroglobulin complement component
    pfam07703
    Location:504672
    A2M_N_2; Alpha-2-macroglobulin family N-terminal region
    pfam12248
    Location:10321133
    Methyltransf_FA; Farnesoic acid 0-methyl transferase
  10. XM_017026594.1XP_016882083.1  C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X5

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