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    CRISPLD1 cysteine rich secretory protein LCCL domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 83690, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CRISPLD1provided by HGNC
    Official Full Name
    cysteine rich secretory protein LCCL domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:18206
    See related
    Ensembl:ENSG00000121005 AllianceGenome:HGNC:18206
    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
    CRISP10; LCRISP1; CRISP-10
    Summary
    Involved in face morphogenesis. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in prostate (RPKM 14.1), thyroid (RPKM 6.1) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CRISPLD1 in Genome Data Viewer
    Location:
    8q21.13
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (74984505..75034558)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (75414017..75464071)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (75896740..75946793)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene MIR2052 host gene Neighboring gene microRNA 2052 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:75720049-75720586 Neighboring gene peptidase inhibitor 15 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:75859985-75860622 Neighboring gene uncharacterized LOC124901964 Neighboring gene uncharacterized LOC105375905 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:76042510-76043087 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:76131164-76131759 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:76190151-76191350 Neighboring gene cancer susceptibility 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. CRISPLD1: a novel conserved target in the transition to human heart failure. Khadjeh S, et al. Basic Res Cardiol, 2020 Mar 7. PMID 32146539, Free PMC Article
    2. Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection. Chiquet BT, et al. Birth Defects Res A Clin Mol Teratol, 2011 Jan. PMID 21254358, Free PMC Article
    3. N(6)-Methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation. Cheng Y, et al. Cancer Cell, 2021 Jul 12. PMID 34048709, Free PMC Article
    4. Dynamic Protein Interactions of the Polycomb Repressive Complex 2 during Differentiation of Pluripotent Cells. Oliviero G, et al. Mol Cell Proteomics, 2016 Nov. PMID 27634302, Free PMC Article
    5. Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT). Gonzalez-Begne M, et al. J Proteome Res, 2009 Mar. PMID 19199708, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp762F133

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in face morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in hematopoietic stem cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cysteine-rich secretory protein LCCL domain-containing 1
    Names
    CocoaCrisp
    LCCL domain-containing cysteine-rich secretory protein 1
    cysteine-rich secretory protein 10
    trypsin inhibitor Hl

    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_001286777.2 → NP_001273706.1  cysteine-rich secretory protein LCCL domain-containing 1 isoform 2

      See identical proteins and their annotated locations for NP_001273706.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at an alternate start codon, compared to variant 1. The encoded protein (isoform 2) is shorter and has distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC100782, AC102801, AK304350
      Consensus CDS
      CCDS69497.1
      UniProtKB/Swiss-Prot
      Q9H336
      Related
      ENSP00000429746.1, ENST00000517786.1
      Conserved Domains (2) summary
      smart00603
      Location:105 → 189
      LCCL; LCCL domain
      pfam03815
      Location:208 → 306
      LCCL; LCCL domain

    2. NM_001286778.2 → NP_001273707.1  cysteine-rich secretory protein LCCL domain-containing 1 isoform 3

      See identical proteins and their annotated locations for NP_001273707.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 3) is shorter than isoform 1.
      Source sequence(s)
      AC100782, AK304034, DC414945
      Consensus CDS
      CCDS75754.1
      UniProtKB/TrEMBL
      B7Z8V9
      Related
      ENSP00000430105.1, ENST00000523524.5
      Conserved Domains (2) summary
      smart00603
      Location:103 → 187
      LCCL; LCCL domain
      pfam03815
      Location:206 → 304
      LCCL; LCCL domain

    3. NM_031461.6 → NP_113649.1  cysteine-rich secretory protein LCCL domain-containing 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_113649.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC100782, BC020514, BP357192, BU790187
      Consensus CDS
      CCDS6219.1
      UniProtKB/Swiss-Prot
      B2RA60, B7Z929, Q9H336
      Related
      ENSP00000262207.4, ENST00000262207.9
      Conserved Domains (2) summary
      smart00603
      Location:291 → 375
      LCCL; LCCL domain
      cd05380
      Location:63 → 207
      SCP_euk; SCP_euk: SCP-like extracellular protein domain, as found mainly in eukaryotes. This family includes plant pathogenesis-related protein 1 (PR-1), CRISPs, mammalian cysteine-rich secretory proteins, and allergen 5 from vespid venom. It has been proposed ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      74984505..75034558
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      75414017..75464071
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H336.1 GenPept UniProtKB/Swiss-Prot:Q9H336

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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