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CFI complement factor I [ Homo sapiens (human) ]

Gene ID: 3426, updated on 3-Nov-2024

Summary

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Official Symbol
CFIprovided by HGNC
Official Full Name
complement factor Iprovided by HGNC
Primary source
HGNC:HGNC:5394
See related
Ensembl:ENSG00000205403 MIM:217030; AllianceGenome:HGNC:5394
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
FI; IF; KAF; AHUS3; ARMD13; C3BINA; C3b-INA
Summary
This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]
Expression
Biased expression in liver (RPKM 171.8), kidney (RPKM 63.6) and 9 other tissues See more
Orthologs
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Genomic context

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See CFI in Genome Data Viewer
Location:
4q25
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (109730982..109801999, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (113031939..113104052, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (110652138..110723155, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene mitochondrial calcium uniporter dominant negative subunit beta Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 14 Neighboring gene caspase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21805 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21806 Neighboring gene phospholipase A2 group XIIA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21807 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15626 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:110651344-110652220 Neighboring gene uncharacterized LOC124900757 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21808 Neighboring gene GAR1 divergent transcript

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis. Haerynck F, et al. J Clin Immunol, 2013 Nov. PMID 24142231
  2. Mutations of complement factor I and potential mechanisms of neuroinflammation in acute hemorrhagic leukoencephalitis. Broderick L, et al. J Clin Immunol, 2013 Jan. PMID 22926405, Free PMC Article
  3. Human keratinocytes produce the complement inhibitor factor I: Synthesis is regulated by interferon-gamma. Timár KK, et al. Mol Immunol, 2007 Apr. PMID 17320177
  4. A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome. Geelen J, et al. Pediatr Nephrol, 2007 Mar. PMID 17106690
  5. Down-regulated expression of complement factor I: a potential suppressive protein for gastric cancer identified by serum proteome analysis. Liu W, et al. Clin Chim Acta, 2007 Feb. PMID 17067565

See all (142) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Hot Spot of Complement Factor I Rare Variant p.Ile357Met in Patients With Hemolytic Uremic Syndrome.
    Title: Hot Spot of Complement Factor I Rare Variant p.Ile357Met in Patients With Hemolytic Uremic Syndrome.
  2. Elevated expression of complement factor I in lung cancer cells associates with shorter survival-Potentially via non-canonical mechanism.
    Title: Elevated expression of complement factor I in lung cancer cells associates with shorter survival-Potentially via non-canonical mechanism.
  3. CNS Inflammation as the First Sign of Complement Factor I Deficiency.
    Title: CNS Inflammation as the First Sign of Complement Factor I Deficiency: A Severe Myelitis Treated With Intense Immunotherapy and Eculizumab.
  4. Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.
    Title: Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.
  5. Mutations in atypical hemolytic uremic syndrome provide evidence for the role of calcium in complement factor I.
    Title: Mutations in atypical hemolytic uremic syndrome provide evidence for the role of calcium in complement factor I.
  6. A novel method for real-time analysis of the complement C3b:FH:FI complex reveals dominant negative CFI variants in age-related macular degeneration.
    Title: A novel method for real-time analysis of the complement C3b:FH:FI complex reveals dominant negative CFI variants in age-related macular degeneration.
  7. Functional analysis of rare genetic variants in complement factor I in advanced age-related macular degeneration.
    Title: Functional analysis of rare genetic variants in complement factor I in advanced age-related macular degeneration.
  8. An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access.
    Title: An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access.
  9. Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.
    Title: Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.
  10. Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome.
    Title: Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome.
Submit: New GeneRIF Correction See all GeneRIFs (91)

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

EBI GWAS Catalog

Description
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
EBI GWAS Catalog
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
EBI GWAS Catalog
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
EBI GWAS Catalog
Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
EBI GWAS Catalog
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
EBI GWAS Catalog
Seven new loci associated with age-related macular degeneration.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in complement activation, classical pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space HDA PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
complement factor I
Names
C3B/C4B inactivator
C3b-inactivator
Konglutinogen-activating factor
complement component I
complement control protein factor I
complement factor I heavy chain
light chain of factor I
NP_000195.3
NP_001304986.2
NP_001317964.1
NP_001362207.1
NP_001362208.1
NP_001362209.1
NP_001362210.1
NP_001362211.1
NP_001362212.1
NP_001362213.1
XP_006714273.1
XP_011530222.1
XP_047271609.1
XP_047271610.1
XP_054205914.1
XP_054205915.1
XP_054205916.1
XP_054205917.1
XP_054205918.1
XP_054205919.1
XP_054205920.1
XP_054205921.1
XP_054205922.1

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.

Genomic

  1. NG_007569.1 RefSeqGene

    Range
    4807..66294
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_48

mRNA and Protein(s)

  1. NM_000204.5 → NP_000195.3  complement factor I isoform 2 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes isoform 2.
    Source sequence(s)
    AC126283
    Consensus CDS
    CCDS34049.1
    UniProtKB/Swiss-Prot
    O60442, P05156
    UniProtKB/TrEMBL
    A8K3L0
    Related
    ENSP00000378130.2, ENST00000394634.7
    Conserved Domains (5) summary
    smart00057
    Location:43 → 108
    FIMAC; factor I membrane attack complex
    smart00202
    Location:114 → 215
    SR; Scavenger receptor Cys-rich
    cd00112
    Location:224 → 256
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:340 → 572
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00057
    Location:257 → 293
    Ldl_recept_a; Low-density lipoprotein receptor domain class A

  2. NM_001318057.2 → NP_001304986.2  complement factor I isoform 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) contains an alternate in-frame exon compared to variant 2. The encoded isoform (1) is longer than isoform 2.
    Source sequence(s)
    AC126283
    Consensus CDS
    CCDS82946.1
    UniProtKB/TrEMBL
    B4DRF2, E7ETH0
    Related
    ENSP00000378131.3, ENST00000394635.8
    Conserved Domains (5) summary
    smart00057
    Location:43 → 108
    FIMAC; factor I membrane attack complex
    smart00202
    Location:114 → 215
    SR; Scavenger receptor Cys-rich
    cd00112
    Location:224 → 256
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:348 → 580
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00057
    Location:257 → 293
    Ldl_recept_a; Low-density lipoprotein receptor domain class A

  3. NM_001331035.2 → NP_001317964.1  complement factor I isoform 3 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region compared to variant 2. The encoded isoform (3) lacks a portion of the heavy chain compared to isoform 2.
    Source sequence(s)
    AK290625, BM955734, BX453590, DC392360, J02770, N63668
    Consensus CDS
    CCDS82945.1
    UniProtKB/TrEMBL
    A8K3L0, G3XAM2
    Related
    ENSP00000427438.1, ENST00000512148.5
    Conserved Domains (7) summary
    smart00020
    Location:332 → 562
    Tryp_SPc; Trypsin-like serine protease
    smart00057
    Location:43 → 108
    FIMAC; factor I membrane attack complex
    smart00202
    Location:114 → 215
    SR; Scavenger receptor Cys-rich
    cd00112
    Location:224 → 256
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:333 → 565
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00057
    Location:257 → 293
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam00530
    Location:119 → 214
    SRCR; Scavenger receptor cysteine-rich domain

  4. NM_001375278.1 → NP_001362207.1  complement factor I isoform 4 preproprotein

    Status: REVIEWED

    Source sequence(s)
    AC004067, AC126283
    UniProtKB/TrEMBL
    B4DRF2
    Conserved Domains (5) summary
    smart00057
    Location:43 → 108
    FIMAC; factor I membrane attack complex
    smart00202
    Location:114 → 215
    SR; Scavenger receptor Cys-rich
    cd00112
    Location:224 → 256
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:348 → 519
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00057
    Location:257 → 293
    Ldl_recept_a; Low-density lipoprotein receptor domain class A

  5. NM_001375279.1 → NP_001362208.1  complement factor I isoform 5 preproprotein

    Status: REVIEWED

    Source sequence(s)
    AC004067, AC126283
    UniProtKB/TrEMBL
    A8K3L0
    Related
    ENST00000695844.1
    Conserved Domains (5) summary
    smart00057
    Location:43 → 108
    FIMAC; factor I membrane attack complex
    smart00202
    Location:114 → 215
    SR; Scavenger receptor Cys-rich
    cd00112
    Location:224 → 256
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:340 → 511
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00057
    Location:257 → 293
    Ldl_recept_a; Low-density lipoprotein receptor domain class A

  6. NM_001375280.1 → NP_001362209.1  complement factor I isoform 6 preproprotein

    Status: REVIEWED

    Source sequence(s)
    AC004067, AC126283
    UniProtKB/TrEMBL
    A8K3L0
    Conserved Domains (5) summary
    smart00057
    Location:43 → 108
    FIMAC; factor I membrane attack complex
    smart00202
    Location:114 → 215
    SR; Scavenger receptor Cys-rich
    cd00112
    Location:224 → 256
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:333 → 504
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00057
    Location:257 → 293
    Ldl_recept_a; Low-density lipoprotein receptor domain class A

  7. NM_001375281.1 → NP_001362210.1  complement factor I isoform 7 preproprotein

    Status: REVIEWED

    Source sequence(s)
    AC004067, AC126283
    UniProtKB/TrEMBL
    A8K3L0
    Related
    ENST00000695845.1
    Conserved Domains (5) summary
    smart00020
    Location:339 → 511
    Tryp_SPc; Trypsin-like serine protease
    smart00057
    Location:43 → 108
    FIMAC; factor I membrane attack complex
    smart00202
    Location:114 → 215
    SR; Scavenger receptor Cys-rich
    cd00112
    Location:224 → 256
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    pfam00057
    Location:257 → 293
    Ldl_recept_a; Low-density lipoprotein receptor domain class A

  8. NM_001375282.1 → NP_001362211.1  complement factor I isoform 8 preproprotein

    Status: REVIEWED

    Source sequence(s)
    AC004067, AC126283
    UniProtKB/TrEMBL
    A8K3L0
    Conserved Domains (5) summary
    smart00020
    Location:332 → 504
    Tryp_SPc; Trypsin-like serine protease
    smart00057
    Location:43 → 108
    FIMAC; factor I membrane attack complex
    smart00202
    Location:114 → 215
    SR; Scavenger receptor Cys-rich
    cd00112
    Location:224 → 256
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    pfam00057
    Location:257 → 293
    Ldl_recept_a; Low-density lipoprotein receptor domain class A

  9. NM_001375283.1 → NP_001362212.1  complement factor I isoform 9 preproprotein

    Status: REVIEWED

    Source sequence(s)
    AC126283
    UniProtKB/TrEMBL
    A8K3L0
    Conserved Domains (5) summary
    smart00057
    Location:43 → 108
    FIMAC; factor I membrane attack complex
    smart00202
    Location:114 → 215
    SR; Scavenger receptor Cys-rich
    cd00112
    Location:224 → 256
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:321 → 553
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00057
    Location:257 → 293
    Ldl_recept_a; Low-density lipoprotein receptor domain class A

  10. NM_001375284.1 → NP_001362213.1  complement factor I isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC126283
    Conserved Domains (3) summary
    cd00112
    Location:21 → 53
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:137 → 369
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00057
    Location:54 → 90
    Ldl_recept_a; Low-density lipoprotein receptor domain class A

RNA

  1. NR_164671.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC126283

  2. NR_164672.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC126283

  3. NR_164673.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC126283

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    109730982..109801999 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531920.3 → XP_011530222.1  complement factor I isoform X1

    UniProtKB/TrEMBL
    B4DRF2
    Conserved Domains (8) summary
    smart00020
    Location:347 → 519
    Tryp_SPc; Trypsin-like serine protease
    smart00057
    Location:43 → 108
    FIMAC; factor I membrane attack complex
    smart00202
    Location:114 → 215
    SR; Scavenger receptor Cys-rich
    cd00112
    Location:224 → 256
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:348 → 519
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00057
    Location:257 → 293
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam00530
    Location:119 → 214
    SRCR; Scavenger receptor cysteine-rich domain
    pfam13900
    Location:524 → 555
    GVQW; Putative domain of unknown function

  2. XM_047415653.1 → XP_047271609.1  complement factor I isoform X2

  3. XM_047415654.1 → XP_047271610.1  complement factor I isoform X4

  4. XM_006714210.5 → XP_006714273.1  complement factor I isoform X3

    UniProtKB/TrEMBL
    B4DRF2
    Conserved Domains (7) summary
    smart00020
    Location:347 → 520
    Tryp_SPc; Trypsin-like serine protease
    smart00057
    Location:43 → 108
    FIMAC; factor I membrane attack complex
    smart00202
    Location:114 → 215
    SR; Scavenger receptor Cys-rich
    cd00112
    Location:224 → 256
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:348 → 520
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00057
    Location:257 → 293
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
    pfam00530
    Location:119 → 214
    SRCR; Scavenger receptor cysteine-rich domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    113031939..113104052 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349941.1 → XP_054205916.1  complement factor I isoform X6

  2. XM_054349940.1 → XP_054205915.1  complement factor I isoform X1

  3. XM_054349944.1 → XP_054205919.1  complement factor I isoform X8

  4. XM_054349943.1 → XP_054205918.1  complement factor I isoform X7

  5. XM_054349942.1 → XP_054205917.1  complement factor I isoform X2

  6. XM_054349947.1 → XP_054205922.1  complement factor I isoform X4

  7. XM_054349946.1 → XP_054205921.1  complement factor I isoform X9

  8. XM_054349939.1 → XP_054205914.1  complement factor I isoform X5

  9. XM_054349945.1 → XP_054205920.1  complement factor I isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P05156.2 GenPept UniProtKB/Swiss-Prot:P05156

Gene LinkOut

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Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous