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Q4G0M1

- ERFE_HUMAN

UniProt

Q4G0M1 - ERFE_HUMAN

Protein

Erythroferrone

Gene

FAM132B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 54 (01 Oct 2014)
      Sequence version 2 (10 Jun 2008)
      Previous versions | rss
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    Functioni

    Iron-regulatory hormone that acts as an erythroid regulator after hemorrhage: produced by erythroblasts following blood loss and mediates suppression of hepcidin (HAMP) expression in the liver, thereby promoting increased iron absorption and mobilization from stores. Promotes lipid uptake into adipocytes and hepatocytes via transcriptional up-regulation of genes involved in fatty acid uptake By similarity.By similarity

    GO - Molecular functioni

    1. hormone activity Source: UniProtKB

    GO - Biological processi

    1. cellular iron ion homeostasis Source: UniProtKB
    2. positive regulation of fatty acid transport Source: Ensembl
    3. regulation of fatty acid metabolic process Source: Ensembl

    Keywords - Molecular functioni

    Hormone

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Erythroferrone
    Alternative name(s):
    Complement C1q tumor necrosis factor-related protein 15
    Myonectin
    Gene namesi
    Name:FAM132B
    Synonyms:C1QTNF15, CTRP15, ERFE
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:26727. FAM132B.

    Subcellular locationi

    Secreted By similarity

    GO - Cellular componenti

    1. extracellular region Source: UniProtKB
    2. extracellular space Source: Ensembl

    Keywords - Cellular componenti

    Secreted

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2828Sequence AnalysisAdd
    BLAST
    Chaini29 – 354326ErythroferronePRO_0000340250Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi243 – 2431N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi295 – 2951N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi333 – 3331N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    N-glycosylated.By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ4G0M1.
    PaxDbiQ4G0M1.
    PRIDEiQ4G0M1.

    Expressioni

    Gene expression databases

    BgeeiQ4G0M1.
    CleanExiHS_FAM132B.
    GenevestigatoriQ4G0M1.

    Interactioni

    Subunit structurei

    Homodimer; disulfide-linked. May form heteromeric complexes with C1QTNF2 and FAM132A and, to a lesser extent, with C1QTNF5 and C1QTNF10 By similarity.By similarity

    Structurei

    3D structure databases

    ProteinModelPortaliQ4G0M1.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini199 – 354156C1qPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi111 – 12919Pro-richAdd
    BLAST
    Compositional biasi177 – 1804Poly-Asp

    Sequence similaritiesi

    Belongs to the adipolin/erythroferrone family.Curated
    Contains 1 C1q domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG42889.
    HOGENOMiHOG000112436.
    HOVERGENiHBG107865.
    InParanoidiQ4G0M1.
    OMAiGSHFSAI.
    OrthoDBiEOG7XSTFH.
    PhylomeDBiQ4G0M1.
    TreeFamiTF331282.

    Family and domain databases

    InterProiIPR001073. C1q.
    IPR008983. Tumour_necrosis_fac-like_dom.
    [Graphical view]
    SUPFAMiSSF49842. SSF49842. 1 hit.
    PROSITEiPS50871. C1Q. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q4G0M1-1 [UniParc]FASTAAdd to Basket

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    MAPARRPAGA RLLLVYAGLL AAAAAGLGSP EPGAPSRSRA RREPPPGNEL    50
    PRGPGESRAG PAARPPEPTA ERAHSVDPRD AWMLFVRQSD KGVNGKKRSR 100
    GKAKKLKFGL PGPPGPPGPQ GPPGPIIPPE ALLKEFQLLL KGAVRQRERA 150
    EPEPCTCGPA GPVAASLAPV SATAGEDDDD VVGDVLALLA APLAPGPRAP 200
    RVEAAFLCRL RRDALVERRA LHELGVYYLP DAEGAFRRGP GLNLTSGQYR 250
    APVAGFYALA ATLHVALGEP PRRGPPRPRD HLRLLICIQS RCQRNASLEA 300
    IMGLESSSEL FTISVNGVLY LQMGQWTSVF LDNASGCSLT VRSGSHFSAV 350
    LLGV 354
    Length:354
    Mass (Da):37,279
    Last modified:June 10, 2008 - v2
    Checksum:iF336BBFC1068FF52
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti220 – 22910ALHELGVYYL → SRGDHPCPSQ in AAH47423. (PubMed:15489334)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    KF984314 mRNA. Translation: AHL84165.1.
    AC016757 Genomic DNA. No translation available.
    BC047423 mRNA. Translation: AAH47423.1.
    RefSeqiNP_001278761.1. NM_001291832.1.
    UniGeneiHs.24951.
    Hs.742300.

    Genome annotation databases

    EnsembliENST00000546354; ENSP00000442304; ENSG00000178752.
    GeneIDi151176.

    Polymorphism databases

    DMDMi190359335.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    KF984314 mRNA. Translation: AHL84165.1 .
    AC016757 Genomic DNA. No translation available.
    BC047423 mRNA. Translation: AAH47423.1 .
    RefSeqi NP_001278761.1. NM_001291832.1.
    UniGenei Hs.24951.
    Hs.742300.

    3D structure databases

    ProteinModelPortali Q4G0M1.
    ModBasei Search...
    MobiDBi Search...

    Polymorphism databases

    DMDMi 190359335.

    Proteomic databases

    MaxQBi Q4G0M1.
    PaxDbi Q4G0M1.
    PRIDEi Q4G0M1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000546354 ; ENSP00000442304 ; ENSG00000178752 .
    GeneIDi 151176.

    Organism-specific databases

    GeneCardsi GC02P239067.
    HGNCi HGNC:26727. FAM132B.
    MIMi 615099. gene.
    neXtProti NX_Q4G0M1.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG42889.
    HOGENOMi HOG000112436.
    HOVERGENi HBG107865.
    InParanoidi Q4G0M1.
    OMAi GSHFSAI.
    OrthoDBi EOG7XSTFH.
    PhylomeDBi Q4G0M1.
    TreeFami TF331282.

    Miscellaneous databases

    PROi Q4G0M1.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q4G0M1.
    CleanExi HS_FAM132B.
    Genevestigatori Q4G0M1.

    Family and domain databases

    InterProi IPR001073. C1q.
    IPR008983. Tumour_necrosis_fac-like_dom.
    [Graphical view ]
    SUPFAMi SSF49842. SSF49842. 1 hit.
    PROSITEi PS50871. C1Q. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of erythroferrone as an erythroid regulator of iron metabolism."
      Kautz L., Jung G., Valore E.V., Rivella S., Nemeth E., Ganz T.
      Nat. Genet. 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Liver.
    2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 220-354.
      Tissue: Testis.

    Entry informationi

    Entry nameiERFE_HUMAN
    AccessioniPrimary (citable) accession number: Q4G0M1
    Secondary accession number(s): W8S2M9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 10, 2008
    Last sequence update: June 10, 2008
    Last modified: October 1, 2014
    This is version 54 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3