LOCUS       NM_001379307            1135 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens complement factor H related 1 (CFHR1), transcript
            variant 3, mRNA.
ACCESSION   NM_001379307
VERSION     NM_001379307.1
KEYWORDS    RefSeq.
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 1135)
  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 1135)
  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 1135)
  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 1135)
  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 1135)
  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 1135)
  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 1135)
  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 1135)
  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 1135)
  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 1135)
  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.
            
            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 :: SRR5189664.141568.1,
                                           DRR138522.285408.1 [ECO:0000332]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-172               AL049741.8         49399-49570
            173-205             AL049741.8         55307-55339
            206-382             AL049741.8         56497-56673
            383-559             AL049741.8         57738-57914
            560-742             AL049741.8         60168-60350
            743-1135            AL049741.8         61465-61857
FEATURES             Location/Qualifiers
     source          1..1135
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31.3"
     gene            1..1135
                     /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..945
                     /gene="CFHR1"
                     /gene_synonym="CFHL; CFHL1; CFHL1P; CFHR1P; FHL-1; FHR-1;
                     FHR1; H36; H36-1; H36-2; HFL1; HFL2"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3; 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 3
                     precursor"
                     /protein_id="NP_001366236.1"
                     /db_xref="CCDS:CCDS91131.1"
                     /db_xref="GeneID:3078"
                     /db_xref="HGNC:HGNC:4888"
                     /db_xref="MIM:134371"
                     /translation="MWLLVSVILISRISSVGGEEEGWSPTPKCLRLCFFPFVENGHSE
                     SSGQTHLEGDTVQIICNTGYRLQNNENNISCVERGWSTPPKCRSTDTSCVNPPTVQNA
                     HILSRQMSKYPSGERVRYECRSPYEMFGDEEVMCLNGNWTEPPQCKDSTGKCGPPPPI
                     DNGDITSFPLSVYAPASSVEYQCQNLYQLEGNKRITCRNGQWSEPPKCLHPCVISREI
                     MENYNIALRWTAKQKLYLRTGESAEFVCKRGYRLSSRSHTLRTTCWDGKLEYPTCAKR
                     "
     exon            173..205
                     /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            206..382
                     /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            383..559
                     /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            560..742
                     /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            743..1135
                     /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      1116..1121
                     /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      1135
                     /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 agaagaagga
      181 tggtcaccaa caccaaagtg tctcagactg tgtttctttc cttttgtgga aaatggtcat
      241 tctgaatctt caggacaaac acatctggaa ggtgatactg tgcaaattat ttgcaacaca
      301 ggatacagac ttcaaaacaa tgagaacaac atttcatgtg tagaacgggg ctggtccacc
      361 cctcccaaat gcaggtccac tgacacttcc tgtgtgaatc cgcccacagt acaaaatgct
      421 catatactgt cgagacagat gagtaaatat ccatctggtg agagagtacg ttatgaatgt
      481 aggagccctt atgaaatgtt tggggatgaa gaagtgatgt gtttaaatgg aaactggaca
      541 gaaccacctc aatgcaaaga ttctacggga aaatgtgggc cccctccacc tattgacaat
      601 ggggacatta cttcattccc gttgtcagta tatgctccag cttcatcagt tgagtaccaa
      661 tgccagaact tgtatcaact tgagggtaac aagcgaataa catgtagaaa tggacaatgg
      721 tcagaaccac caaaatgctt acatccgtgt gtaatatccc gagaaattat ggaaaattat
      781 aacatagcat taaggtggac agccaaacag aagctttatt tgagaacagg tgaatcagct
      841 gaatttgtgt gtaaacgggg atatcgtctt tcatcacgtt ctcacacatt gcgaacaaca
      901 tgttgggatg ggaaactgga gtatccaact tgtgcaaaaa gatagaatca atcataaaat
      961 gcacaccttt attcagaact ttagtattaa atcagttctt aatttcattt ttaagtattg
     1021 ttttactcct ttttattcat acgtaaaatt ttggattaat ttgtgaaaat gtaattataa
     1081 gctgagaccg gtggctctct tcttaaaagc accatattaa aacttggaaa actaa
//
