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MANSC1 MANSC domain containing 1 [ Homo sapiens (human) ]

Gene ID: 54682, updated on 22-Sep-2022

Summary

Official Symbol
MANSC1provided by HGNC
Official Full Name
MANSC domain containing 1provided by HGNC
Primary source
HGNC:HGNC:25505
See related
Ensembl:ENSG00000111261 AllianceGenome:HGNC:25505
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
Also known as
LOH12CR3; 9130403P13Rik
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in salivary gland (RPKM 15.1), esophagus (RPKM 14.1) and 25 other tissues See more
Orthologs
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Genomic context

See MANSC1 in Genome Data Viewer
Location:
12p13.2
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (12326056..12350242, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (12195172..12219375, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (12478990..12503176, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene LDL receptor related protein 6 Neighboring gene ubiquitin-conjugating enzyme E2 variant 1-like Neighboring gene RNA, U6 small nuclear 318, pseudogene Neighboring gene ribosomal protein L23a pseudogene 66 Neighboring gene CRISPRi-validated cis-regulatory element chr12.586 Neighboring gene loss of heterozygosity on chromosome 12, region 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10298

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
MANSC domain-containing protein 1
Names
loss of heterozygosity 12 chromosomal region 3 protein
NP_001350542.1
NP_060520.2

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.

mRNA and Protein(s)

  1. NM_001363613.2NP_001350542.1  MANSC domain-containing protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC007621
    Consensus CDS
    CCDS86284.1
    Related
    ENSP00000379638.3, ENST00000396349.3
    Conserved Domains (2) summary
    smart00765
    Location:1283
    MANEC; The MANEC domain, formerly called MANSC
    cl25495
    Location:186374
    Endomucin; Endomucin
  2. NM_018050.4NP_060520.2  MANSC domain-containing protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_060520.2

    Status: VALIDATED

    Source sequence(s)
    AC007621, AK023622
    Consensus CDS
    CCDS8648.1
    UniProtKB/Swiss-Prot
    Q9H8J5, Q9NW60
    Related
    ENSP00000438205.1, ENST00000535902.6
    Conserved Domains (2) summary
    smart00765
    Location:24117
    MANEC; The MANEC domain, formerly called MANSC
    PHA03255
    Location:220408
    PHA03255; BDLF3; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    12326056..12350242 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_011332696.1 Reference GRCh38.p14 PATCHES

    Range
    295054..319240 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    12195172..12219375 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)