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P28069

- PIT1_HUMAN

UniProt

P28069 - PIT1_HUMAN

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Protein

Pituitary-specific positive transcription factor 1

Gene

POU1F1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Activates growth hormone and prolactin genes. Specifically binds to the consensus sequence 5'-TAAAT-3'.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi214 – 27360HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. chromatin binding Source: Ensembl
  2. RNA polymerase II activating transcription factor binding Source: BHF-UCL
  3. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  4. RNA polymerase II transcription coactivator activity Source: BHF-UCL
  5. sequence-specific DNA binding Source: Ensembl
  6. sequence-specific DNA binding transcription factor activity Source: BHF-UCL
  7. transcription corepressor activity Source: Ensembl

GO - Biological processi

  1. B cell differentiation Source: Ensembl
  2. cell fate specification Source: Ensembl
  3. determination of adult lifespan Source: Ensembl
  4. negative regulation of cell proliferation Source: ProtInc
  5. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  6. nuclear transport Source: Ensembl
  7. positive regulation of cell proliferation Source: Ensembl
  8. positive regulation of inositol trisphosphate biosynthetic process Source: Ensembl
  9. positive regulation of multicellular organism growth Source: Ensembl
  10. positive regulation of transcription, DNA-templated Source: BHF-UCL
  11. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  12. regulation of insulin-like growth factor receptor signaling pathway Source: Ensembl
  13. somatotropin secreting cell development Source: Ensembl
  14. transcription from RNA polymerase II promoter Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Pituitary-specific positive transcription factor 1
Short name:
PIT-1
Alternative name(s):
Growth hormone factor 1
Short name:
GHF-1
Gene namesi
Name:POU1F1
Synonyms:GHF1, PIT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:9210. POU1F1.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038]: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD1 is characterized by pleiotropic deficiencies of growth hormone, prolactin and thyroid-stimulating hormone, while the production of adrenocorticotropic hormone, luteinizing hormone, and follicle-stimulating hormone are preserved. In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen. Some cases present with severe mental retardation along with short stature.10 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti24 – 241P → L in CPHD1. 1 Publication
VAR_003777
Natural varianti135 – 1351F → C in CPHD1. 1 Publication
VAR_010574
Natural varianti143 – 1431R → Q in CPHD1. 1 Publication
VAR_003778
Natural varianti158 – 1581A → P in CPHD1. 1 Publication
VAR_003779
Natural varianti172 – 1721R → Q in CPHD1; associated with severe impairment of transactivation; has a greatly reduced DNA-binding affinity as the wild-type protein. 1 Publication
VAR_063425
Natural varianti174 – 1741E → G in CPHD1. 1 Publication
VAR_010575
Natural varianti179 – 1791S → R in CPHD1; transactivation capacity of this mutant is markedly decreased on the GH1, PRL, TSHB and POU1F1 genes; abolishes the functional interaction of POU1F1 on the PRL promoter with the coactivator CREBBP but not with the transcription factor LHX3; displays normal nuclear accumulation but a markedly decreased binding to a DNA response element. 1 Publication
VAR_063426
Natural varianti193 – 1931W → R in CPHD1. 1 Publication
VAR_015260
Natural varianti230 – 2301E → K in CPHD1; associated with less severe impairment of transactivation; has a similar DNA-binding affinity as the wild-type protein. 1 Publication
VAR_063427
Natural varianti239 – 2391P → S in CPHD1; loss of function. 1 Publication
VAR_010576
Natural varianti271 – 2711R → W in CPHD1. 4 Publications
VAR_003781

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

MIMi613038. phenotype.
Orphaneti95494. Combined pituitary hormone deficiencies, genetic forms.
226307. Hypothyroidism due to deficient transcription factors involved in pituitary development or function.
PharmGKBiPA33534.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 291291Pituitary-specific positive transcription factor 1PRO_0000100697Add
BLAST

Proteomic databases

PaxDbiP28069.
PRIDEiP28069.

PTM databases

PhosphoSiteiP28069.

Expressioni

Gene expression databases

BgeeiP28069.
CleanExiHS_POU1F1.
GenevestigatoriP28069.

Organism-specific databases

HPAiHPA041646.

Interactioni

Protein-protein interaction databases

BioGridi111445. 13 interactions.
MINTiMINT-1521664.
STRINGi9606.ENSP00000342931.

Structurei

3D structure databases

ProteinModelPortaliP28069.
SMRiP28069. Positions 129-273.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini124 – 19875POU-specificPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation
Contains 1 POU-specific domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG241031.
GeneTreeiENSGT00760000118935.
HOGENOMiHOG000116302.
HOVERGENiHBG053120.
InParanoidiP28069.
KOiK09363.
OMAiTATGLHY.
OrthoDBiEOG7DJSMG.
PhylomeDBiP28069.
TreeFamiTF316413.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
IPR015586. Pit_1.
IPR013847. POU.
IPR000327. POU_specific.
[Graphical view]
PANTHERiPTHR11636:SF82. PTHR11636:SF82. 1 hit.
PfamiPF00046. Homeobox. 1 hit.
PF00157. Pou. 1 hit.
[Graphical view]
PRINTSiPR00028. POUDOMAIN.
SMARTiSM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00035. POU_1. 1 hit.
PS00465. POU_2. 1 hit.
PS51179. POU_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform B (identifier: P28069-1) [UniParc]FASTAAdd to Basket

Also known as: Pit-1B, GHF-1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSCQAFTSAD TFIPLNSDAS ATLPLIMHHS AAECLPVSNH ATNVMSTATG
60 70 80 90 100
LHYSVPSCHY GNQPSTYGVM AGSLTPCLYK FPDHTLSHGF PPIHQPLLAE
110 120 130 140 150
DPTAADFKQE LRRKSKLVEE PIDMDSPEIR ELEKFANEFK VRRIKLGYTQ
160 170 180 190 200
TNVGEALAAV HGSEFSQTTI CRFENLQLSF KNACKLKAIL SKWLEEAEQV
210 220 230 240 250
GALYNEKVGA NERKRKRRTT ISIAAKDALE RHFGEQNKPS SQEIMRMAEE
260 270 280 290
LNLEKEVVRV WFCNRRQREK RVKTSLNQSL FSISKEHLEC R
Length:291
Mass (Da):32,912
Last modified:August 1, 1992 - v1
Checksum:i0866777E3E425873
GO
Isoform A (identifier: P28069-2) [UniParc]FASTAAdd to Basket

Also known as: Pit-1A, GHF-2

The sequence of this isoform differs from the canonical sequence as follows:
     47-47: T → TVPSILSLIQTPKCLCTHFSVTTLGNT

Note: Altered in its ability to trans-activate compared to isoform B.

Show »
Length:317
Mass (Da):35,669
Checksum:i3982D139208D46FD
GO

Sequence cautioni

The sequence CAA54440.2 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41Q → R.1 Publication
Corresponds to variant rs1051612 [ dbSNP | Ensembl ].
VAR_003776
Natural varianti19 – 191A → V.
Corresponds to variant rs35182189 [ dbSNP | Ensembl ].
VAR_049361
Natural varianti24 – 241P → L in CPHD1. 1 Publication
VAR_003777
Natural varianti135 – 1351F → C in CPHD1. 1 Publication
VAR_010574
Natural varianti143 – 1431R → Q in CPHD1. 1 Publication
VAR_003778
Natural varianti158 – 1581A → P in CPHD1. 1 Publication
VAR_003779
Natural varianti172 – 1721R → Q in CPHD1; associated with severe impairment of transactivation; has a greatly reduced DNA-binding affinity as the wild-type protein. 1 Publication
VAR_063425
Natural varianti174 – 1741E → G in CPHD1. 1 Publication
VAR_010575
Natural varianti179 – 1791S → R in CPHD1; transactivation capacity of this mutant is markedly decreased on the GH1, PRL, TSHB and POU1F1 genes; abolishes the functional interaction of POU1F1 on the PRL promoter with the coactivator CREBBP but not with the transcription factor LHX3; displays normal nuclear accumulation but a markedly decreased binding to a DNA response element. 1 Publication
VAR_063426
Natural varianti193 – 1931W → R in CPHD1. 1 Publication
VAR_015260
Natural varianti227 – 2271D → Y.1 Publication
Corresponds to variant rs1131815 [ dbSNP | Ensembl ].
VAR_003780
Natural varianti230 – 2301E → K in CPHD1; associated with less severe impairment of transactivation; has a similar DNA-binding affinity as the wild-type protein. 1 Publication
VAR_063427
Natural varianti239 – 2391P → S in CPHD1; loss of function. 1 Publication
VAR_010576
Natural varianti271 – 2711R → W in CPHD1. 4 Publications
VAR_003781

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei47 – 471T → TVPSILSLIQTPKCLCTHFS VTTLGNT in isoform A. CuratedVSP_002314

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L18781 mRNA. Translation: AAA60093.1.
X62429 mRNA. Translation: CAA44295.1.
D10216 mRNA. Translation: BAA01068.1.
X72215 mRNA. Translation: CAA51017.1.
D12892 Genomic DNA. Translation: BAA02291.1.
X77223, X77224 Genomic DNA. Translation: CAA54440.2. Sequence problems.
X77223, X77224 Genomic DNA. Translation: CAA54441.1.
D11333 Genomic DNA. Translation: BAA34536.1.
CCDSiCCDS2919.1. [P28069-1]
CCDS46873.1. [P28069-2]
PIRiS18718.
RefSeqiNP_000297.1. NM_000306.3. [P28069-1]
NP_001116229.1. NM_001122757.2. [P28069-2]
UniGeneiHs.591654.

Genome annotation databases

EnsembliENST00000344265; ENSP00000342931; ENSG00000064835. [P28069-2]
ENST00000350375; ENSP00000263781; ENSG00000064835. [P28069-1]
GeneIDi5449.
KEGGihsa:5449.
UCSCiuc003dqq.1. human. [P28069-1]
uc010hoj.1. human. [P28069-2]

Polymorphism databases

DMDMi123408.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L18781 mRNA. Translation: AAA60093.1 .
X62429 mRNA. Translation: CAA44295.1 .
D10216 mRNA. Translation: BAA01068.1 .
X72215 mRNA. Translation: CAA51017.1 .
D12892 Genomic DNA. Translation: BAA02291.1 .
X77223 , X77224 Genomic DNA. Translation: CAA54440.2 . Sequence problems.
X77223 , X77224 Genomic DNA. Translation: CAA54441.1 .
D11333 Genomic DNA. Translation: BAA34536.1 .
CCDSi CCDS2919.1. [P28069-1 ]
CCDS46873.1. [P28069-2 ]
PIRi S18718.
RefSeqi NP_000297.1. NM_000306.3. [P28069-1 ]
NP_001116229.1. NM_001122757.2. [P28069-2 ]
UniGenei Hs.591654.

3D structure databases

ProteinModelPortali P28069.
SMRi P28069. Positions 129-273.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111445. 13 interactions.
MINTi MINT-1521664.
STRINGi 9606.ENSP00000342931.

PTM databases

PhosphoSitei P28069.

Polymorphism databases

DMDMi 123408.

Proteomic databases

PaxDbi P28069.
PRIDEi P28069.

Protocols and materials databases

DNASUi 5449.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000344265 ; ENSP00000342931 ; ENSG00000064835 . [P28069-2 ]
ENST00000350375 ; ENSP00000263781 ; ENSG00000064835 . [P28069-1 ]
GeneIDi 5449.
KEGGi hsa:5449.
UCSCi uc003dqq.1. human. [P28069-1 ]
uc010hoj.1. human. [P28069-2 ]

Organism-specific databases

CTDi 5449.
GeneCardsi GC03M087307.
HGNCi HGNC:9210. POU1F1.
HPAi HPA041646.
MIMi 173110. gene.
613038. phenotype.
neXtProti NX_P28069.
Orphaneti 95494. Combined pituitary hormone deficiencies, genetic forms.
226307. Hypothyroidism due to deficient transcription factors involved in pituitary development or function.
PharmGKBi PA33534.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG241031.
GeneTreei ENSGT00760000118935.
HOGENOMi HOG000116302.
HOVERGENi HBG053120.
InParanoidi P28069.
KOi K09363.
OMAi TATGLHY.
OrthoDBi EOG7DJSMG.
PhylomeDBi P28069.
TreeFami TF316413.

Miscellaneous databases

GeneWikii Pituitary-specific_positive_transcription_factor_1.
GenomeRNAii 5449.
NextBioi 21089.
PROi P28069.
SOURCEi Search...

Gene expression databases

Bgeei P28069.
CleanExi HS_POU1F1.
Genevestigatori P28069.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
IPR015586. Pit_1.
IPR013847. POU.
IPR000327. POU_specific.
[Graphical view ]
PANTHERi PTHR11636:SF82. PTHR11636:SF82. 1 hit.
Pfami PF00046. Homeobox. 1 hit.
PF00157. Pou. 1 hit.
[Graphical view ]
PRINTSi PR00028. POUDOMAIN.
SMARTi SM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00035. POU_1. 1 hit.
PS00465. POU_2. 1 hit.
PS51179. POU_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. "Cloning of the human cDNA for transcription factor Pit-1."
    Lew A.M., Elsholtz H.P.
    Nucleic Acids Res. 19:6329-6329(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B).
    Tissue: Pituitary anterior lobe.
  2. "Nucleotide sequence of the complementary DNA for human Pit-1/GHF-1."
    Tatsumi K.I., Notomi T., Amino N., Miyai K.
    Biochim. Biophys. Acta 1129:231-234(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM B).
  3. "The structure and the chromosomal location of the human PIT1 gene."
    Tatsumi K., Notomi T., Irie Y., Endo Y., Onogi S., Amino N., Miyai K.
    Submitted (AUG-1992) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM A).
  4. "A novel pituitary transcription factor is produced by alternative splicing of the human GHF-1/PIT-1 gene."
    Delhase M., Vila V., Hooghe-Peters E.L., Castrillo J.-L.
    Gene 155:273-275(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-71, ALTERNATIVE SPLICING (ISOFORM A).
    Tissue: Placenta.
  5. Delhase M.
    Submitted (DEC-2010) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  6. "Characterization of the gene encoding human pituitary-specific transcription factor, Pit-1."
    Ohta K., Nobukuni Y., Mitsubuchi H., Ohta T., Tohma T., Jinno Y., Endo F., Matsuda I.
    Gene 122:387-388(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-47.
  7. "A 'hot spot' in the Pit-1 gene responsible for combined pituitary hormone deficiency: clinical and molecular correlates."
    Cohen L.E., Wondisford F.E., Salvatoni A., Maghnie M., Brucker-Davis F., Weintraub B.D., Radovick S.
    J. Clin. Endocrinol. Metab. 80:679-684(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 214-273, VARIANT CPHD1 TRP-271.
  8. "Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency."
    Ohta K., Nobukuni Y., Mitsubuchi H., Fujimoto S., Matsuo N., Inagaki H., Endo F., Matsuda I.
    Biochem. Biophys. Res. Commun. 189:851-855(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CPHD1 LEU-24; GLN-143 AND TRP-271.
  9. "A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency."
    Radovick S., Nations M., Du Y., Berg L.A., Weintraub B.D., Wondisford F.E.
    Science 257:1115-1118(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CPHD1 TRP-271.
  10. "Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia."
    Pfaeffle R.W., DiMattia G.E., Parks J.S., Brown M.R., Wit J.M., Jansen M., van der Nat H., van den Brande J.L., Rosenfeld M.G., Ingraham H.A.
    Science 257:1118-1121(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CPHD1 PRO-158.
  11. Cited for: VARIANTS ARG-4 AND TYR-227.
    Tissue: Pituitary.
  12. "A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency."
    Pellegrini-Bouiller I., Belicar P., Barlier A., Gunz G., Charvet J.P., Jaquet P., Brue T., Vialettes B., Enjalbert A.
    J. Clin. Endocrinol. Metab. 81:2790-2796(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CPHD1 CYS-135.
  13. "Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene."
    Brown M.R., Parks J.S., Adess M.E., Rich B.H., Rosenthal I.M., Voss T.C., VanderHeyden T.C., Hurley D.L.
    Horm. Res. 49:98-102(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CPHD1 GLY-174.
  14. "Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency."
    Pernasetti F.M., Milner R.D.G., Al-Ashwal A.A.Z., de Zegher F., Chavez V.M., Muller M., Martial J.A.
    J. Clin. Endocrinol. Metab. 83:2079-2083(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CPHD1 SER-239.
  15. "Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the PIT1/POU1F1 gene."
    Hendriks-Stegeman B.I., Augustijn K.D., Bakker B., Holthuizen P., van der Vliet P.C., Jansen M.
    J. Clin. Endocrinol. Metab. 86:1545-1550(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CPHD1 ARG-193.
  16. Cited for: VARIANTS CPHD1 GLN-172; LYS-230 AND TRP-271, CHARACTERIZATION OF VARIANTS CPHD1 GLN-172 AND LYS-230.
  17. "Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency."
    Miyata I., Vallette-Kasic S., Saveanu A., Takeuchi M., Yoshikawa H., Tajima A., Tojo K., Reynaud R., Gueydan M., Enjalbert A., Tajima N., Eto Y., Brue T.
    J. Clin. Endocrinol. Metab. 91:4981-4987(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CPHD1 ARG-179, CHARACTERIZATION OF VARIANT CPHD1 ARG-179.

Entry informationi

Entry nameiPIT1_HUMAN
AccessioniPrimary (citable) accession number: P28069
Secondary accession number(s): O75757
, Q15132, Q15133, Q9UD34, Q9UEL3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: August 1, 1992
Last modified: October 29, 2014
This is version 152 of the entry and version 1 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 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3