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

Summary

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

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CRISPLD1: a novel conserved target in the transition to human heart failure; findings provide new pathophysiological data on Ca(2+) regulation in the transition to failure and novel candidate genes with promising potential for therapeutic interventions
Title: CRISPLD1: a novel conserved target in the transition to human heart failure.
These novel findings suggest that CRISPLD1 plays a role in Nonsyndromic cleft lip and palate (NSCLP) through the interaction with CRISPLD2 and folate pathway genes.
Title: Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection.

Submit: New GeneRIF Correction

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48530 (e-PCR)
- UniSTS:20140

SHGC-32056 (e-PCR)
- UniSTS:81085

RH36903 (e-PCR)
- UniSTS:92106

RH102399 (e-PCR)
- UniSTS:96733

G20223 (e-PCR)
- UniSTS:62959

STS-G20223 (e-PCR)
- UniSTS:62960

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 more info	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)

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
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
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 ...