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

Gene ID: 54839, updated on 5-Jul-2020

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
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
Expression
Broad expression in heart (RPKM 8.5), testis (RPKM 7.2) and 19 other tissues See more
Orthologs

Genomic context

See LRRC49 in Genome Data Viewer
Location:
15q23
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (70853239..71053658)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (71145578..71342436)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uveal autoantigen with coiled-coil domains and ankyrin repeats Neighboring gene ribosomal protein L29 pseudogene 30 Neighboring gene La ribonucleoprotein 6, translational regulator Neighboring gene keratin 8 pseudogene 9 Neighboring gene THAP domain containing 10 Neighboring gene uncharacterized LOC105370886 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

Homology

Clone Names

  • FLJ20156

Gene Ontology Provided by GOA

Process Evidence Code Pubs
outer dynein arm assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
leucine-rich repeat-containing protein 49
Names
tubulin polyglutamylase complex subunit 4

NCBI Reference Sequences (RefSeq)

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_001199017.2NP_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)
    AK000163, AK295547, AK301971, BC026157, BM979547
    Consensus CDS
    CCDS58376.1
    UniProtKB/Swiss-Prot
    Q8IUZ0
    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_001199018.2NP_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)
    AK000163, AK301971, BC026157, BM979547
    Consensus CDS
    CCDS55971.1
    UniProtKB/Swiss-Prot
    Q8IUZ0
    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_001284357.1NP_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)
    AC090868, AK123672, AK301971, BC026157, BU729331, DA395472
    Consensus CDS
    CCDS61694.1
    UniProtKB/Swiss-Prot
    Q8IUZ0
    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_001363732.1NP_001350661.1  leucine-rich repeat-containing protein 49 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC013752, AC084703, AC090868, AK301971
    Consensus CDS
    CCDS86472.1
  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
    Q8IUZ0
    UniProtKB/TrEMBL
    B7Z7G0
    Related
    ENSP00000260382.4, ENST00000260382.9
    Conserved Domains (3) summary
    sd00033
    Location:114135
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:158198
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:201256
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    70853239..71053658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449965.1XP_024305733.1  leucine-rich repeat-containing protein 49 isoform X1

    Conserved Domains (2) summary
    COG4886
    Location:122276
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:109130
    LRR_RI; leucine-rich repeat [structural motif]
  2. XM_011521715.3XP_011520017.1  leucine-rich repeat-containing protein 49 isoform X2

    See identical proteins and their annotated locations for XP_011520017.1

    UniProtKB/Swiss-Prot
    Q8IUZ0
    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. XM_011521717.2XP_011520019.1  leucine-rich repeat-containing protein 49 isoform X3

    See identical proteins and their annotated locations for XP_011520019.1

    UniProtKB/TrEMBL
    H0YNV5
    Related
    ENSP00000454170.1, ENST00000560691.5
  4. XM_005254492.4XP_005254549.1  leucine-rich repeat-containing protein 49 isoform X3

    See identical proteins and their annotated locations for XP_005254549.1

    UniProtKB/TrEMBL
    H0YNV5
    Related
    ENSP00000452775.1, ENST00000560158.6
  5. XM_017022358.1XP_016877847.1  leucine-rich repeat-containing protein 49 isoform X2

    UniProtKB/Swiss-Prot
    Q8IUZ0
    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
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