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MCTP1 multiple C2 and transmembrane domain containing 1 [ Homo sapiens (human) ]

Gene ID: 79772, updated on 12-Oct-2019

Summary

Official Symbol
MCTP1provided by HGNC
Official Full Name
multiple C2 and transmembrane domain containing 1provided by HGNC
Primary source
HGNC:HGNC:26183
See related
Ensembl:ENSG00000175471 MIM:616296
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Ubiquitous expression in brain (RPKM 4.3), fat (RPKM 3.5) and 22 other tissues See more
Orthologs

Genomic context

See MCTP1 in Genome Data Viewer
Location:
5q15
Exon count:
30
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (94703690..95284575, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (94038280..94620279, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene KIAA0825 Neighboring gene uncharacterized LOC105379086 Neighboring gene FAST kinase domains 1 pseudogene Neighboring gene SMC5-SMC6 complex localization factor 1 Neighboring gene ribosomal protein L7 pseudogene 18 Neighboring gene uncharacterized LOC105379085 Neighboring gene uncharacterized LOC105379089 Neighboring gene family with sequence similarity 81 member B Neighboring gene RTRAF pseudogene 2

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

NHGRI GWAS Catalog

Description
Genetic variants associated with disordered eating.
NHGRI GWA Catalog
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.
NHGRI GWA Catalog

General gene information

Markers

Homology

Clone Names

  • FLJ22344

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
NOT calcium-dependent phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
calcium-mediated signaling NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of response to oxidative stress ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of neuronal synaptic plasticity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of neurotransmitter secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of neurotransmitter secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
recycling endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
multiple C2 and transmembrane domain-containing protein 1
Names
multiple C2 domains, transmembrane 1
multiple C2-domains with two transmembrane regions 1

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_001002796.3NP_001002796.1  multiple C2 and transmembrane domain-containing protein 1 isoform S

    See identical proteins and their annotated locations for NP_001002796.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (S) differs in the 5' UTR and 5' coding sequence compared to variant L. The resulting isoform (S) is shorter and has a distinct N-terminus compared to isoform L.
    Source sequence(s)
    AC008534, AK091330, AY656716, BQ003171, DC422762
    Consensus CDS
    CCDS47247.1
    UniProtKB/Swiss-Prot
    Q6DN14
    Related
    ENSP00000308957.8, ENST00000312216.12
    Conserved Domains (4) summary
    cd04042
    Location:41162
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:250365
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:405523
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:666751
    PRT_C; Plant phosphoribosyltransferase C-terminal
  2. NM_001297777.1NP_001284706.1  multiple C2 and transmembrane domain-containing protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001284706.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding sequence, and lacks three internal coding exons but maintains the reading frame, compared to variant L. The resulting isoform (3) has a shorter and distinct N-terminus and lacks two internal segments, compared to isoform L.
    Source sequence(s)
    AC008534, AK057694, AK091330, BQ003171, DC422762
    Consensus CDS
    CCDS75275.1
    UniProtKB/Swiss-Prot
    Q6DN14
    Related
    ENSP00000391639.2, ENST00000429576.6
    Conserved Domains (4) summary
    cd04042
    Location:41162
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:204319
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:359477
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:580665
    PRT_C; Plant phosphoribosyltransferase C-terminal
  3. NM_024717.5NP_078993.4  multiple C2 and transmembrane domain-containing protein 1 isoform L

    See identical proteins and their annotated locations for NP_078993.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (L) represents the longest transcript and encodes the longest isoform (L).
    Source sequence(s)
    AC008534, AK091330, AK297325, AY656715, BQ003171
    Consensus CDS
    CCDS34203.1
    UniProtKB/Swiss-Prot
    Q6DN14
    UniProtKB/TrEMBL
    B7Z4G1
    Related
    ENSP00000424126.1, ENST00000515393.5
    Conserved Domains (4) summary
    cd04042
    Location:262383
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:471586
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:626744
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:887972
    PRT_C; Plant phosphoribosyltransferase C-terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    94703690..95284575 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009856.1XP_016865345.1  multiple C2 and transmembrane domain-containing protein 1 isoform X3

  2. XM_017009862.2XP_016865351.1  multiple C2 and transmembrane domain-containing protein 1 isoform X10

  3. XM_017009858.2XP_016865347.1  multiple C2 and transmembrane domain-containing protein 1 isoform X5

  4. XM_017009855.2XP_016865344.1  multiple C2 and transmembrane domain-containing protein 1 isoform X2

  5. XM_017009861.2XP_016865350.1  multiple C2 and transmembrane domain-containing protein 1 isoform X8

  6. XM_017009857.1XP_016865346.1  multiple C2 and transmembrane domain-containing protein 1 isoform X4

  7. XM_017009859.1XP_016865348.1  multiple C2 and transmembrane domain-containing protein 1 isoform X6

  8. XM_006714692.4XP_006714755.1  multiple C2 and transmembrane domain-containing protein 1 isoform X11

    Conserved Domains (4) summary
    cd04042
    Location:56177
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:206321
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:361479
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:622707
    PRT_C; Plant phosphoribosyltransferase C-terminal
  9. XM_005272082.5XP_005272139.1  multiple C2 and transmembrane domain-containing protein 1 isoform X1

    Conserved Domains (4) summary
    cd04042
    Location:56177
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:265380
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:420538
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:681766
    PRT_C; Plant phosphoribosyltransferase C-terminal
  10. XM_017009864.2XP_016865353.1  multiple C2 and transmembrane domain-containing protein 1 isoform X8

  11. XM_017009863.1XP_016865352.1  multiple C2 and transmembrane domain-containing protein 1 isoform X13

    Related
    ENSP00000423410.1, ENST00000508509.5
    Conserved Domains (4) summary
    cd04042
    Location:41162
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:191306
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:346464
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:607692
    PRT_C; Plant phosphoribosyltransferase C-terminal
  12. XM_005272090.4XP_005272147.1  multiple C2 and transmembrane domain-containing protein 1 isoform X12

    Conserved Domains (4) summary
    cd04042
    Location:41162
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:204319
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:359477
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:620705
    PRT_C; Plant phosphoribosyltransferase C-terminal
  13. XM_017009860.1XP_016865349.1  multiple C2 and transmembrane domain-containing protein 1 isoform X7

  14. XM_011543649.3XP_011541951.1  multiple C2 and transmembrane domain-containing protein 1 isoform X9

    Conserved Domains (4) summary
    cd04042
    Location:3124
    C2A_MCTP_PRT; C2 domain first repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08376
    Location:212327
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:367485
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:628713
    PRT_C; Plant phosphoribosyltransferase C-terminal
  15. XM_011543650.2XP_011541952.1  multiple C2 and transmembrane domain-containing protein 1 isoform X14

    Conserved Domains (4) summary
    cd08376
    Location:132247
    C2B_MCTP_PRT; C2 domain second repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    cd08377
    Location:287405
    C2C_MCTP_PRT; C2 domain third repeat found in Multiple C2 domain and Transmembrane region Proteins (MCTP)
    pfam08372
    Location:548633
    PRT_C; Plant phosphoribosyltransferase C-terminal
    cl14603
    Location:144
    C2; C2 domain
  16. XM_017009865.2XP_016865354.1  multiple C2 and transmembrane domain-containing protein 1 isoform X15

    Related
    ENSP00000426438.1, ENST00000505208.5

RNA

  1. XR_001742264.2 RNA Sequence

  2. XR_001742267.1 RNA Sequence

  3. XR_001742266.1 RNA Sequence

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