LOCUS       NP_000177               1231 aa            linear   PRI 12-NOV-2024
DEFINITION  complement factor H isoform a precursor [Homo sapiens].
ACCESSION   NP_000177
VERSION     NP_000177.2
DBSOURCE    REFSEQ: accession NM_000186.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1231)
  AUTHORS   Gebetsberger,L., Malekshahi,Z., Teutsch,A., Tajti,G., Fontaine,F.,
            Marella,N., Mueller,A., Prantl,L., Stockinger,H., Stoiber,H. and
            Ohradanova-Repic,A.
  TITLE     SARS-CoV-2 hijacks host CD55, CD59 and factor H to impair
            antibody-dependent complement-mediated lysis
  JOURNAL   Emerg Microbes Infect 13 (1), 2417868 (2024)
   PUBMED   39435487
  REMARK    GeneRIF: SARS-CoV-2 hijacks host CD55, CD59 and factor H to impair
            antibody-dependent complement-mediated lysis.
REFERENCE   2  (residues 1 to 1231)
  AUTHORS   Kang,Y.H., Varghese,P.M., Aiyan,A.A., Pondman,K., Kishore,U. and
            Sim,R.B.
  TITLE     Complement-Coagulation Cross-talk: Factor H-mediated regulation of
            the Complement Classical Pathway activation by fibrin clots
  JOURNAL   Front Immunol 15, 1368852 (2024)
   PUBMED   38933264
  REMARK    GeneRIF: Complement-Coagulation Cross-talk: Factor H-mediated
            regulation of the Complement Classical Pathway activation by fibrin
            clots.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1231)
  AUTHORS   Yasmin,H., Agostinis,C., Toffoli,M., Roy,T., Pegoraro,S.,
            Balduit,A., Zito,G., Di Simone,N., Ricci,G., Madan,T., Kishore,U.
            and Bulla,R.
  TITLE     Protective role of complement factor H against the development of
            preeclampsia
  JOURNAL   Front Immunol 15, 1351898 (2024)
   PUBMED   38464530
  REMARK    GeneRIF: Protective role of complement factor H against the
            development of preeclampsia.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1231)
  AUTHORS   Martin,B. and Smith,R.J.H.
  TITLE     C3 Glomerulopathy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301598
REFERENCE   5  (residues 1 to 1231)
  AUTHORS   Noris,M., Bresin,E., Mele,C. and Remuzzi,G.
  TITLE     Genetic Atypical Hemolytic-Uremic Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301541
REFERENCE   6  (residues 1 to 1231)
  AUTHORS   DiScipio,R.G.
  TITLE     Ultrastructures and interactions of complement factors H and I
  JOURNAL   J Immunol 149 (8), 2592-2599 (1992)
   PUBMED   1401896
REFERENCE   7  (residues 1 to 1231)
  AUTHORS   Barlow,P.N., Norman,D.G., Steinkasserer,A., Horne,T.J., Pearce,J.,
            Driscoll,P.C., Sim,R.B. and Campbell,I.D.
  TITLE     Solution structure of the fifth repeat of factor H: a second
            example of the complement control protein module
  JOURNAL   Biochemistry 31 (14), 3626-3634 (1992)
   PUBMED   1533152
REFERENCE   8  (residues 1 to 1231)
  AUTHORS   Schwaeble,W., Schwaiger,H., Brooimans,R.A., Barbieri,A., Most,J.,
            Hirsch-Kauffmann,M., Tiefenthaler,M., Lappin,D.F., Daha,M.R.,
            Whaley,K. et al.
  TITLE     Human complement factor H. Tissue specificity in the expression of
            three different mRNA species
  JOURNAL   Eur J Biochem 198 (2), 399-404 (1991)
   PUBMED   1828229
REFERENCE   9  (residues 1 to 1231)
  AUTHORS   Estaller,C., Koistinen,V., Schwaeble,W., Dierich,M.P. and
            Weiss,E.H.
  TITLE     Cloning of the 1.4-kb mRNA species of human complement factor H
            reveals a novel member of the short consensus repeat family related
            to the carboxy terminal of the classical 150-kDa molecule
  JOURNAL   J Immunol 146 (9), 3190-3196 (1991)
   PUBMED   1826708
REFERENCE   10 (residues 1 to 1231)
  AUTHORS   Estaller,C., Schwaeble,W., Dierich,M. and Weiss,E.H.
  TITLE     Human complement factor H: two factor H proteins are derived from
            alternatively spliced transcripts
  JOURNAL   Eur J Immunol 21 (3), 799-802 (1991)
   PUBMED   1826264
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM842566.1, Y00716.1,
            AL049744.8, BP324193.1 and BC142699.1.
            
            On Apr 19, 2005 this sequence version replaced NP_000177.1.
            
            Summary: This gene is a member of the Regulator of Complement
            Activation (RCA) gene cluster and encodes a protein with twenty
            short consensus repeat (SCR) domains. This protein is secreted into
            the bloodstream and has an essential role in the regulation of
            complement activation, restricting this innate defense mechanism to
            microbial infections. Mutations in this gene have been associated
            with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic
            nephropathy. Alternate transcriptional splice variants, encoding
            different isoforms, have been characterized. [provided by RefSeq,
            Oct 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC142699.1, Y00716.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000367429.9/
                                                  ENSP00000356399.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1231
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31.3"
     Protein         1..1231
                     /product="complement factor H isoform a precursor"
                     /EC_number="4.2.1.2"
                     /note="H factor 1 (complement); H factor 2 (complement);
                     beta-1H; age-related maculopathy susceptibility 1;
                     beta-1-H-globulin; factor H-like 1; adrenomedullin binding
                     protein"
                     /calculated_mol_wt=137027
     sig_peptide     1..18
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
                     /calculated_mol_wt=2062
     Region          10..262
                     /region_name="PHA02927"
                     /note="secreted complement-binding protein; Provisional"
                     /db_xref="CDD:222943"
     mat_peptide     19..1231
                     /product="complement factor H isoform a"
                     /calculated_mol_wt=137027
     Region          203..>444
                     /region_name="PHA02954"
                     /note="EEV membrane glycoprotein; Provisional"
                     /db_xref="CDD:165263"
     Site            217
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:19139490; propagated from
                     UniProtKB/Swiss-Prot (P08603.4)"
     Region          454..506
                     /region_name="CCP"
                     /note="Complement control protein (CCP) modules (aka short
                     consensus repeats SCRs or SUSHI repeats) have been
                     identified in several proteins of the complement system;
                     cd00033"
                     /db_xref="CDD:153056"
     Site            order(459,478)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Region          505..745
                     /region_name="PHA02927"
                     /note="secreted complement-binding protein; Provisional"
                     /db_xref="CDD:222943"
     Site            529
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:17591618, ECO:0000269|PubMed:19159218,
                     ECO:0000269|PubMed:2963625; propagated from
                     UniProtKB/Swiss-Prot (P08603.4)"
     Region          <696..>799
                     /region_name="PHA02954"
                     /note="EEV membrane glycoprotein; Provisional"
                     /db_xref="CDD:165263"
     Site            718
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17591618; propagated from
                     UniProtKB/Swiss-Prot (P08603.4)"
     Site            802
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17591618,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P08603.4)"
     Region          819..1032
                     /region_name="PHA02927"
                     /note="secreted complement-binding protein; Provisional"
                     /db_xref="CDD:222943"
     Site            822
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17591618; propagated from
                     UniProtKB/Swiss-Prot (P08603.4)"
     Site            882
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:14760718,
                     ECO:0000269|PubMed:17591618, ECO:0000269|PubMed:19139490,
                     ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:19838169;
                     propagated from UniProtKB/Swiss-Prot (P08603.4)"
     Site            911
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:16335952,
                     ECO:0000269|PubMed:17591618, ECO:0000269|PubMed:19139490,
                     ECO:0000269|PubMed:19159218; propagated from
                     UniProtKB/Swiss-Prot (P08603.4)"
     Region          989..1230
                     /region_name="PHA02927"
                     /note="secreted complement-binding protein; Provisional"
                     /db_xref="CDD:222943"
     Site            1029
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) (complex) asparagine.
                     /evidence=ECO:0000269|PubMed:17591618,
                     ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:19159218;
                     propagated from UniProtKB/Swiss-Prot (P08603.4)"
     Site            1095
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000269|PubMed:17591618; propagated from
                     UniProtKB/Swiss-Prot (P08603.4)"
     CDS             1..1231
                     /gene="CFH"
                     /gene_synonym="AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; FH;
                     FHL1; HF; HF1; HF2; HUS"
                     /coded_by="NM_000186.4:76..3771"
                     /note="isoform a precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS1385.1"
                     /db_xref="GeneID:3075"
                     /db_xref="HGNC:HGNC:4883"
                     /db_xref="MIM:134370"
ORIGIN      
        1 mrllakiicl mlwaicvaed cnelpprrnt eiltgswsdq typegtqaiy kcrpgyrslg
       61 nvimvcrkge wvalnplrkc qkrpcghpgd tpfgtftltg gnvfeygvka vytcnegyql
      121 lgeinyrecd tdgwtndipi cevvkclpvt apengkivss amepdreyhf gqavrfvcns
      181 gykiegdeem hcsddgfwsk ekpkcveisc kspdvingsp isqkiiyken erfqykcnmg
      241 yeysergdav ctesgwrplp sceekscdnp yipngdyspl rikhrtgdei tyqcrngfyp
      301 atrgntakct stgwipaprc tlkpcdypdi khgglyhenm rrpyfpvavg kyysyycdeh
      361 fetpsgsywd hihctqdgws pavpclrkcy fpylengynq nhgrkfvqgk sidvachpgy
      421 alpkaqttvt cmengwsptp rcirvktcsk ssidiengfi sesqytyalk ekakyqcklg
      481 yvtadgetsg sitcgkdgws aqptcikscd ipvfmnartk ndftwfklnd tldyechdgy
      541 esntgsttgs ivcgyngwsd lpicyerece lpkidvhlvp drkkdqykvg evlkfsckpg
      601 ftivgpnsvq cyhfglspdl pickeqvqsc gpppellngn vkektkeeyg hsevveyycn
      661 prflmkgpnk iqcvdgewtt lpvciveest cgdipelehg waqlssppyy ygdsvefncs
      721 esftmighrs itcihgvwtq lpqcvaidkl kkckssnlii leehlknkke fdhnsniryr
      781 crgkegwiht vcingrwdpe vncsmaqiql cppppqipns hnmtttlnyr dgekvsvlcq
      841 enyliqegee itckdgrwqs iplcvekipc sqppqiehgt inssrssqes yahgtklsyt
      901 ceggfrisee nettcymgkw ssppqceglp cksppeishg vvahmsdsyq ygeevtykcf
      961 egfgidgpai akclgekwsh ppsciktdcl slpsfenaip mgekkdvyka geqvtytcat
     1021 yykmdgasnv tcinsrwtgr ptcrdtscvn pptvqnayiv srqmskypsg ervryqcrsp
     1081 yemfgdeevm clngnwtepp qckdstgkcg ppppidngdi tsfplsvyap assveyqcqn
     1141 lyqlegnkri tcrngqwsep pkclhpcvis reimenynia lrwtakqkly srtgesvefv
     1201 ckrgyrlssr shtlrttcwd gkleyptcak r
//
