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CFHR4 complement factor H related 4 [ Homo sapiens (human) ]

Gene ID: 10877, updated on 22-Aug-2020

Summary

Official Symbol
CFHR4provided by HGNC
Official Full Name
complement factor H related 4provided by HGNC
Primary source
HGNC:HGNC:16979
See related
Ensembl:ENSG00000134365 MIM:605337
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FHR4; CFHL4; FHR-4
Summary
This gene is a member of the complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasma proteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). This protein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate with lipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding different isoforms (varying in the number of SCRs) have been described for this gene. [provided by RefSeq, Jan 2011]
Expression
Restricted expression toward liver (RPKM 22.1) See more
Orthologs

Genomic context

See CFHR4 in Genome Data Viewer
Location:
1q31.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (196888051..196918911)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (196857144..196887843)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene complement factor H related 1 Neighboring gene complement factor H-related protein 3-like Neighboring gene uncharacterized LOC105371675 Neighboring gene complement factor H related 2 Neighboring gene complement factor H related 5

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?

Phenotypes

Associated conditions

Description Tests
Atypical hemolytic uremic syndrome Compare labs
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
GeneReviews: Not available
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
GeneReviews: Not available
Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipid transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
lipid transport IEA
Inferred from Electronic Annotation
more info
 
regulation of complement activation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
complement factor H-related protein 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.

Genomic

  1. NG_028159.1 RefSeqGene

    Range
    5039..35620
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1224

mRNA and Protein(s)

  1. NM_001201550.3NP_001188479.1  complement factor H-related protein 4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001188479.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1, also known as FHR-4A).
    Source sequence(s)
    AJ640130, AK292752, BX248415, X98337
    UniProtKB/Swiss-Prot
    Q92496
    Related
    ENSP00000477162.2, ENST00000608469.6
    Conserved Domains (3) summary
    cd00033
    Location:458513
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    PHA02927
    Location:339577
    PHA02927; secreted complement-binding protein; Provisional
    pfam00084
    Location:2783
    Sushi; Sushi repeat (SCR repeat)
  2. NM_001201551.2NP_001188480.1  complement factor H-related protein 4 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate acceptor splice site in the 5' coding region compared to variant 1, resulting in an isoform (2) shorter by 1 aa compared to isoform 1.
    Source sequence(s)
    AJ640130, AK292752, BX248415
    Consensus CDS
    CCDS55671.1
    UniProtKB/Swiss-Prot
    Q92496
    Related
    ENSP00000356386.2, ENST00000367416.6
    Conserved Domains (3) summary
    cd00033
    Location:457512
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    PHA02927
    Location:338576
    PHA02927; secreted complement-binding protein; Provisional
    pfam00084
    Location:2682
    Sushi; Sushi repeat (SCR repeat)
  3. NM_006684.5NP_006675.2  complement factor H-related protein 4 isoform 3 precursor

    See identical proteins and their annotated locations for NP_006675.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is missing four consecutive coding exons compared to variant 1. However, it maintains the reading frame and encodes isoform 3 (also known as FHR-4B), which is shorter but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    AJ640130, AK292752, X98337
    Consensus CDS
    CCDS41451.1
    UniProtKB/Swiss-Prot
    Q92496
    Related
    ENSP00000251424.4, ENST00000251424.8
    Conserved Domains (3) summary
    cd00033
    Location:211266
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    PHA02927
    Location:92330
    PHA02927; secreted complement-binding protein; Provisional
    pfam00084
    Location:2783
    Sushi; Sushi repeat (SCR repeat)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    196888051..196918911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000110.1XP_016855599.1  complement factor H-related protein 4 isoform X2

  2. XM_006711129.3XP_006711192.1  complement factor H-related protein 4 isoform X1

    Conserved Domains (3) summary
    cd00033
    Location:450505
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    PHA02927
    Location:331569
    PHA02927; secreted complement-binding protein; Provisional
    pfam00084
    Location:1575
    Sushi; Sushi repeat (SCR repeat)
  3. XM_017000111.1XP_016855600.1  complement factor H-related protein 4 isoform X3

  4. XM_017000113.1XP_016855602.1  complement factor H-related protein 4 isoform X5

  5. XM_017000112.1XP_016855601.1  complement factor H-related protein 4 isoform X4

  6. XM_017000114.1XP_016855603.1  complement factor H-related protein 4 isoform X6

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