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LRRC75A leucine rich repeat containing 75A [ Homo sapiens (human) ]

Gene ID: 388341, updated on 3-Apr-2024

Summary

Official Symbol
LRRC75Aprovided by HGNC
Official Full Name
leucine rich repeat containing 75Aprovided by HGNC
Primary source
HGNC:HGNC:32403
See related
Ensembl:ENSG00000181350 AllianceGenome:HGNC:32403
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
FAM211A; C17orf76
Summary
Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in urinary bladder (RPKM 22.4), thyroid (RPKM 17.1) and 21 other tissues See more
Orthologs
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Genomic context

See LRRC75A in Genome Data Viewer
Location:
17p11.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (16441577..16492193, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (16343882..16394482, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (16344891..16395507, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16342605-16343506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16347109-16348008 Neighboring gene small nucleolar RNA, C/D box 49A Neighboring gene small nucleolar RNA host gene 29 Neighboring gene small nucleolar RNA, C/D box 65 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16351973-16352474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16352475-16352974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16359695-16360196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16360197-16360696 Neighboring gene Sharpr-MPRA regulatory regions 7543 and 3494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16369025-16369816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16379787-16380698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16380699-16381609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16386369-16387185 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16387442-16388368 Neighboring gene uncharacterized LOC124903936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16389294-16390219 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16390220-16391144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8225 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8227 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:16400945-16401445 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:16419598-16420797 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11767 Neighboring gene uncharacterized LOC124903940 Neighboring gene uncharacterized LOC124903941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11768 Neighboring gene uncharacterized LOC105371554

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?

General gene information

Markers

Clone Names

  • FLJ35696

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
leucine-rich repeat-containing protein 75A
Names
family with sequence similarity 211, member A
leucine-rich repeat-containing protein C17orf76
leucine-rich repeat-containing protein FAM211A

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_001113567.3NP_001107039.1  leucine-rich repeat-containing protein 75A isoform 1

    See identical proteins and their annotated locations for NP_001107039.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC093484, AC127540, AI298465, BC144381, DB460063
    Consensus CDS
    CCDS45620.1
    UniProtKB/Swiss-Prot
    Q8NAA5
    UniProtKB/TrEMBL
    B7ZMA3
    Related
    ENSP00000419502.1, ENST00000470794.2
    Conserved Domains (2) summary
    cd00116
    Location:169265
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00031
    Location:193216
    LRR_1; leucine-rich repeat [structural motif]
  2. NM_207387.4NP_997270.2  leucine-rich repeat-containing protein 75A isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region which results in a frameshift and premature stop codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC093484, AC127540, AI298465, AK093015, DB460063
    Consensus CDS
    CCDS11178.2
    UniProtKB/Swiss-Prot
    Q8NAA5
    Related
    ENSP00000386504.3, ENST00000409083.7

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    16441577..16492193 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024620.2XP_016880109.1  leucine-rich repeat-containing protein 75A isoform X2

    UniProtKB/TrEMBL
    B7ZMA3
  2. XM_047435961.1XP_047291917.1  leucine-rich repeat-containing protein 75A isoform X3

  3. XM_017024619.2XP_016880108.1  leucine-rich repeat-containing protein 75A isoform X1

  4. XM_047435962.1XP_047291918.1  leucine-rich repeat-containing protein 75A isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    16343882..16394482 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316035.1XP_054172010.1  leucine-rich repeat-containing protein 75A isoform X5

  2. XM_054316033.1XP_054172008.1  leucine-rich repeat-containing protein 75A isoform X2

  3. XM_054316034.1XP_054172009.1  leucine-rich repeat-containing protein 75A isoform X3

  4. XM_054316032.1XP_054172007.1  leucine-rich repeat-containing protein 75A isoform X1