LOCUS       NM_002113               1297 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens complement factor H related 1 (CFHR1), transcript
            variant 1, mRNA.
ACCESSION   NM_002113
VERSION     NM_002113.3
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  (bases 1 to 1297)
  AUTHORS   Liu,Y., Shen,T., Liu,J., Yu,X., Li,Q., Chen,T. and Jiang,T.
  TITLE     CFHR1 involvement in bile duct carcinoma: Insights from a data
            mining study
  JOURNAL   Anal Biochem 688, 115474 (2024)
   PUBMED   38286352
  REMARK    GeneRIF: CFHR1 involvement in bile duct carcinoma: Insights from a
            data mining study.
REFERENCE   2  (bases 1 to 1297)
  AUTHORS   Hamza,A., El-Sissy,C., Yousfi,N., Martins,P.V., Rafat,C.,
            Masliah-Planchon,J., Fremeaux-Bacchi,V. and Mesnard,L.
  TITLE     The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly
            can limit the molecular diagnosis of complement-related diseases
  JOURNAL   Eur J Hum Genet 31 (7), 730-732 (2023)
   PUBMED   37032353
  REMARK    GeneRIF: The absence of CFHR3 and CFHR1 genes from the T2T-CHM13
            assembly can limit the molecular diagnosis of complement-related
            diseases.
REFERENCE   3  (bases 1 to 1297)
  AUTHORS   Sugawara,Y., Kato,H., Nagasaki,M., Yoshida,Y., Fujisawa,M.,
            Minegishi,N., Yamamoto,M. and Nangaku,M.
  TITLE     CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic
            syndrome
  JOURNAL   J Hum Genet 68 (6), 427-430 (2023)
   PUBMED   36755127
  REMARK    GeneRIF: CFH-CFHR1 hybrid genes in two cases of atypical hemolytic
            uremic syndrome.
REFERENCE   4  (bases 1 to 1297)
  AUTHORS   Piras,R., Valoti,E., Alberti,M., Bresin,E., Mele,C., Breno,M.,
            Liguori,L., Donadelli,R., Rigoldi,M., Benigni,A., Remuzzi,G. and
            Noris,M.
  TITLE     CFH and CFHR structural variants in atypical Hemolytic Uremic
            Syndrome: Prevalence, genomic characterization and impact on
            outcome
  JOURNAL   Front Immunol 13, 1011580 (2023)
   PUBMED   36793547
  REMARK    GeneRIF: CFH and CFHR structural variants in atypical Hemolytic
            Uremic Syndrome: Prevalence, genomic characterization and impact on
            outcome.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1297)
  AUTHORS   Zipfel,P.F. and Skerka,C.
  TITLE     Complement factor H and related proteins: an expanding family of
            complement-regulatory proteins?
  JOURNAL   Immunol Today 15 (3), 121-126 (1994)
   PUBMED   8172644
  REMARK    Review article
REFERENCE   6  (bases 1 to 1297)
  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   7  (bases 1 to 1297)
  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   8  (bases 1 to 1297)
  AUTHORS   Skerka,C., Horstmann,R.D. and Zipfel,P.F.
  TITLE     Molecular cloning of a human serum protein structurally related to
            complement factor H
  JOURNAL   J Biol Chem 266 (18), 12015-12020 (1991)
   PUBMED   1711047
REFERENCE   9  (bases 1 to 1297)
  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 (bases 1 to 1297)
  AUTHORS   Timmann,C., Leippe,M. and Horstmann,R.D.
  TITLE     Two major serum components antigenically related to complement
            factor H are different glycosylation forms of a single protein with
            no factor H-like complement regulatory functions
  JOURNAL   J Immunol 146 (4), 1265-1270 (1991)
   PUBMED   1825108
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049741.8.
            
            On Mar 30, 2020 this sequence version replaced NM_002113.2.
            
            Summary: This gene encodes a secreted protein belonging to the
            complement factor H protein family. It binds to Pseudomonas
            aeruginosa elongation factor Tuf together with plasminogen, which
            is proteolytically activated. It is proposed that Tuf acts as a
            virulence factor by acquiring host proteins to the pathogen
            surface, controlling complement, and facilitating tissue invasion.
            Mutations in this gene are associated with an increased risk of
            atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009].
            
            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 :: BC016755.1, X56210.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320493.10/ ENSP00000314299.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-172               AL049741.8         49399-49570
            173-367             AL049741.8         55145-55339
            368-544             AL049741.8         56497-56673
            545-721             AL049741.8         57738-57914
            722-904             AL049741.8         60168-60350
            905-1297            AL049741.8         61465-61857
FEATURES             Location/Qualifiers
     source          1..1297
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31.3"
     gene            1..1297
                     /gene="CFHR1"
                     /gene_synonym="CFHL; CFHL1; CFHL1P; CFHR1P; FHL-1; FHR-1;
                     FHR1; H36; H36-1; H36-2; HFL1; HFL2"
                     /note="complement factor H related 1"
                     /db_xref="GeneID:3078"
                     /db_xref="HGNC:HGNC:4888"
                     /db_xref="MIM:134371"
     exon            1..172
                     /gene="CFHR1"
                     /gene_synonym="CFHL; CFHL1; CFHL1P; CFHR1P; FHL-1; FHR-1;
                     FHR1; H36; H36-1; H36-2; HFL1; HFL2"
                     /inference="alignment:Splign:2.1.0"
     CDS             115..1107
                     /gene="CFHR1"
                     /gene_synonym="CFHL; CFHL1; CFHL1P; CFHR1P; FHL-1; FHR-1;
                     FHR1; H36; H36-1; H36-2; HFL1; HFL2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; complement factor H-related 1 pseudogene; H
                     factor (complement)-like 1; H factor (complement)-like 2;
                     complement factor H-related protein 1; H-factor-like 1; h
                     factor-like protein 1"
                     /codon_start=1
                     /product="complement factor H-related protein 1 isoform 1
                     precursor"
                     /protein_id="NP_002104.2"
                     /db_xref="CCDS:CCDS1386.1"
                     /db_xref="GeneID:3078"
                     /db_xref="HGNC:HGNC:4888"
                     /db_xref="MIM:134371"
                     /translation="MWLLVSVILISRISSVGGEATFCDFPKINHGILYDEEKYKPFSQ
                     VPTGEVFYYSCEYNFVSPSKSFWTRITCTEEGWSPTPKCLRLCFFPFVENGHSESSGQ
                     THLEGDTVQIICNTGYRLQNNENNISCVERGWSTPPKCRSTDTSCVNPPTVQNAHILS
                     RQMSKYPSGERVRYECRSPYEMFGDEEVMCLNGNWTEPPQCKDSTGKCGPPPPIDNGD
                     ITSFPLSVYAPASSVEYQCQNLYQLEGNKRITCRNGQWSEPPKCLHPCVISREIMENY
                     NIALRWTAKQKLYLRTGESAEFVCKRGYRLSSRSHTLRTTCWDGKLEYPTCAKR"
     exon            173..367
                     /gene="CFHR1"
                     /gene_synonym="CFHL; CFHL1; CFHL1P; CFHR1P; FHL-1; FHR-1;
                     FHR1; H36; H36-1; H36-2; HFL1; HFL2"
                     /inference="alignment:Splign:2.1.0"
     exon            368..544
                     /gene="CFHR1"
                     /gene_synonym="CFHL; CFHL1; CFHL1P; CFHR1P; FHL-1; FHR-1;
                     FHR1; H36; H36-1; H36-2; HFL1; HFL2"
                     /inference="alignment:Splign:2.1.0"
     exon            545..721
                     /gene="CFHR1"
                     /gene_synonym="CFHL; CFHL1; CFHL1P; CFHR1P; FHL-1; FHR-1;
                     FHR1; H36; H36-1; H36-2; HFL1; HFL2"
                     /inference="alignment:Splign:2.1.0"
     exon            722..904
                     /gene="CFHR1"
                     /gene_synonym="CFHL; CFHL1; CFHL1P; CFHR1P; FHL-1; FHR-1;
                     FHR1; H36; H36-1; H36-2; HFL1; HFL2"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1297
                     /gene="CFHR1"
                     /gene_synonym="CFHL; CFHL1; CFHL1P; CFHR1P; FHL-1; FHR-1;
                     FHR1; H36; H36-1; H36-2; HFL1; HFL2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1278..1283
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFHR1"
                     /gene_synonym="CFHL; CFHL1; CFHL1P; CFHR1P; FHL-1; FHR-1;
                     FHR1; H36; H36-1; H36-2; HFL1; HFL2"
                     /note="hexamer: ATTAAA"
     polyA_site      1297
                     /gene="CFHR1"
                     /gene_synonym="CFHL; CFHL1; CFHL1P; CFHR1P; FHL-1; FHR-1;
                     FHR1; H36; H36-1; H36-2; HFL1; HFL2"
                     /note="major polyA site"
ORIGIN      
        1 cagttagtac actgaaattc aaagtcatgc tcataactgt taatgaaagc agattcaaag
       61 caacaccacc accactgaag tatttttagt tatataagat tggaactacc aagcatgtgg
      121 ctcctggtca gtgtaattct aatctcacgg atatcctctg ttgggggaga agcaacattt
      181 tgtgattttc caaaaataaa ccatggaatt ctatatgatg aagaaaaata taagccattt
      241 tcccaggttc ctacagggga agttttctat tactcctgtg aatataattt tgtgtctcct
      301 tcaaaatcat tttggactcg cataacatgc acagaagaag gatggtcacc aacaccaaag
      361 tgtctcagac tgtgtttctt tccttttgtg gaaaatggtc attctgaatc ttcaggacaa
      421 acacatctgg aaggtgatac tgtgcaaatt atttgcaaca caggatacag acttcaaaac
      481 aatgagaaca acatttcatg tgtagaacgg ggctggtcca cccctcccaa atgcaggtcc
      541 actgacactt cctgtgtgaa tccgcccaca gtacaaaatg ctcatatact gtcgagacag
      601 atgagtaaat atccatctgg tgagagagta cgttatgaat gtaggagccc ttatgaaatg
      661 tttggggatg aagaagtgat gtgtttaaat ggaaactgga cagaaccacc tcaatgcaaa
      721 gattctacgg gaaaatgtgg gccccctcca cctattgaca atggggacat tacttcattc
      781 ccgttgtcag tatatgctcc agcttcatca gttgagtacc aatgccagaa cttgtatcaa
      841 cttgagggta acaagcgaat aacatgtaga aatggacaat ggtcagaacc accaaaatgc
      901 ttacatccgt gtgtaatatc ccgagaaatt atggaaaatt ataacatagc attaaggtgg
      961 acagccaaac agaagcttta tttgagaaca ggtgaatcag ctgaatttgt gtgtaaacgg
     1021 ggatatcgtc tttcatcacg ttctcacaca ttgcgaacaa catgttggga tgggaaactg
     1081 gagtatccaa cttgtgcaaa aagatagaat caatcataaa atgcacacct ttattcagaa
     1141 ctttagtatt aaatcagttc ttaatttcat ttttaagtat tgttttactc ctttttattc
     1201 atacgtaaaa ttttggatta atttgtgaaa atgtaattat aagctgagac cggtggctct
     1261 cttcttaaaa gcaccatatt aaaacttgga aaactaa
//
