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LRRC49 leucine rich repeat containing 49 [ Homo sapiens (human) ]

Gene ID: 54839, updated on 3-Dec-2023

Summary

Official Symbol
LRRC49provided by HGNC
Official Full Name
leucine rich repeat containing 49provided by HGNC
Primary source
HGNC:HGNC:25965
See related
Ensembl:ENSG00000137821 MIM:620497; AllianceGenome:HGNC:25965
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
PGs4; CSTPP2
Summary
Predicted to be involved in outer dynein arm assembly. Predicted to be located in microtubule. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in heart (RPKM 8.5), testis (RPKM 7.2) and 19 other tissues See more
Orthologs
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Genomic context

See LRRC49 in Genome Data Viewer
Location:
15q23
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (70853378..71053658)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (68676342..68876951)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (71145717..71345997)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uveal autoantigen with coiled-coil domains and ankyrin repeats Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:71002570-71003070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:71005595-71006134 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:71010983-71011484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6609 Neighboring gene ribosomal protein L29 pseudogene 30 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:71145885-71146386 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:71163033-71163588 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:71163589-71164146 Neighboring gene La ribonucleoprotein 6, translational regulator Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9701 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:71170236-71170412 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:71184427-71185125 Neighboring gene keratin 8 pseudogene 9 Neighboring gene THAP domain containing 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:71281950-71282450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:71282451-71282951 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:71315600-71316198 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:71364462-71365661 Neighboring gene uncharacterized LOC105370886 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr15:71377897-71378512 Neighboring gene ribosomal protein L5 pseudogene 3

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ20156

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
leucine-rich repeat-containing protein 49
Names
centriolar satellite-associated tubulin polyglutamylase complex regulator 2
centriolar satellite-associated tubulin polyglutamylation protein 2
polyglutamylase subunit 4
tubulin polyglutamylase complex subunit 4

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_001199017.3NP_001185946.1  leucine-rich repeat-containing protein 49 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC013752, AC084703, AC090868
    Consensus CDS
    CCDS58376.1
    UniProtKB/TrEMBL
    B7Z7G0
    Related
    ENSP00000453273.1, ENST00000560369.5
    Conserved Domains (3) summary
    sd00033
    Location:119140
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:163203
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:206261
    LRR_8; Leucine rich repeat
  2. NM_001199018.3NP_001185947.1  leucine-rich repeat-containing protein 49 isoform 3

    See identical proteins and their annotated locations for NP_001185947.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site and contains an alternate exon in the 5' region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC013752, AC084703, AC090868
    Consensus CDS
    CCDS55971.1
    UniProtKB/TrEMBL
    B7Z7G0
    Related
    ENSP00000414065.2, ENST00000443425.6
    Conserved Domains (3) summary
    sd00033
    Location:7091
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:114154
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:157212
    LRR_8; Leucine rich repeat
  3. NM_001284357.2NP_001271286.1  leucine-rich repeat-containing protein 49 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and contains multiple differences in the 5' coding region, compared to variant 1, including initiation of translation at an alternate start codon. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC013752, AC084703, AC090868
    Consensus CDS
    CCDS61694.1
    UniProtKB/TrEMBL
    B7Z7G0
    Related
    ENSP00000439600.2, ENST00000544974.6
    Conserved Domains (3) summary
    sd00033
    Location:104125
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:148188
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:191246
    LRR_8; Leucine rich repeat
  4. NM_001363732.2NP_001350661.1  leucine-rich repeat-containing protein 49 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC013752, AC084703, AC090868
    Consensus CDS
    CCDS86472.1
    UniProtKB/TrEMBL
    H0YKE9, H0YNV5
    Related
    ENSP00000454170.1, ENST00000560691.5
  5. NM_017691.5NP_060161.2  leucine-rich repeat-containing protein 49 isoform 2

    See identical proteins and their annotated locations for NP_060161.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
    Source sequence(s)
    AC013752, AC084703, AC090868
    Consensus CDS
    CCDS32282.1
    UniProtKB/Swiss-Prot
    B3KVX1, B7Z366, F5H1J4, G5E9T5, H0YLN4, Q8IUZ0, Q9NXM6
    UniProtKB/TrEMBL
    B7Z7G0
    Related
    ENSP00000260382.4, ENST00000260382.10
    Conserved Domains (2) summary
    sd00033
    Location:114135
    LRR_RI; leucine-rich repeat [structural motif]
    NF033189
    Location:69275
    internalin_A; class 1 internalin InlA

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    70853378..71053658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    68676342..68876951
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)