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Q14938

- NFIX_HUMAN

UniProt

Q14938 - NFIX_HUMAN

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Protein
Nuclear factor 1 X-type
Gene
NFIX
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi1 – 194194CTF/NF-I
Add
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: ProtInc
  3. sequence-specific DNA binding transcription factor activity Source: InterPro

GO - Biological processi

  1. DNA replication Source: UniProtKB-KW
  2. astrocyte differentiation Source: Ensembl
  3. cerebellar Purkinje cell layer development Source: Ensembl
  4. cerebellar granule cell differentiation Source: Ensembl
  5. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  6. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  7. transcription from RNA polymerase II promoter Source: ProtInc
  8. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

DNA replication, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_22339. RNA Polymerase III Abortive And Retractive Initiation.
REACT_63. RNA Polymerase III Transcription Termination.

Names & Taxonomyi

Protein namesi
Recommended name:
Nuclear factor 1 X-type
Short name:
NF1-X
Short name:
Nuclear factor 1/X
Alternative name(s):
CCAAT-box-binding transcription factor
Short name:
CTF
Nuclear factor I/X
Short name:
NF-I/X
Short name:
NFI-X
TGGCA-binding protein
Gene namesi
Name:NFIX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:7788. NFIX.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Sotos syndrome 2 (SOTOS2) [MIM:614753]: A form of Sotos syndrome, a childhood overgrowth syndrome characterized by prenatal and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology. SOTOS2 patients have macrocephaly, long narrow face, high forehead, slender habitus, scoliosis, and unusual behavior characterized especially by anxiety.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601L → P in SOTOS2. 1 Publication
VAR_068720
Natural varianti121 – 1211R → P in SOTOS2. 1 Publication
VAR_068721
Marshall-Smith syndrome (MRSHSS) [MIM:602535]: A distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. Additional skeletal findings include long and thin tubular bones, broad middle phalanges with relatively narrow distal phalanges, and scoliosis.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi602535. phenotype.
614753. phenotype.
Orphaneti561. Marshall-Smith syndrome.
821. Sotos syndrome.
PharmGKBiPA31594.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 502502Nuclear factor 1 X-type
PRO_0000100203Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei280 – 2801Phosphoserine1 Publication
Modified residuei288 – 2881Phosphoserine By similarity
Modified residuei301 – 3011Phosphoserine By similarity
Modified residuei341 – 3411Phosphoserine By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ14938.
PaxDbiQ14938.
PRIDEiQ14938.

PTM databases

PhosphoSiteiQ14938.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Developmental stagei

Prominent expression is observed in the central and peripheral nervous system in the embryo at Carnagie stage 17 (CS17; gestational day 42); at this stage it is also observed in the mandibular arch, cartilage primordium of the humerus, scapula, and vertebrae; in the limb expression is detected in the perichondrium. Expressed in the cerebral cortex, hippocampus, and faintly in the thalamus in fetal brain at 22 weeks of gestation,.1 Publication

Gene expression databases

ArrayExpressiQ14938.
BgeeiQ14938.
CleanExiHS_NFIX.
GenevestigatoriQ14938.

Organism-specific databases

HPAiHPA007533.

Interactioni

Subunit structurei

Binds DNA as a homodimer.

Protein-protein interaction databases

BioGridi110856. 11 interactions.
IntActiQ14938. 1 interaction.
MINTiMINT-4533016.
STRINGi9606.ENSP00000353219.

Structurei

3D structure databases

ProteinModelPortaliQ14938.

Family & Domainsi

Sequence similaritiesi

Belongs to the CTF/NF-I family.

Phylogenomic databases

eggNOGiNOG252172.
HOVERGENiHBG006561.
InParanoidiQ14938.
KOiK09171.
OMAiGQHSQRQ.
OrthoDBiEOG7WDN2K.
PhylomeDBiQ14938.
TreeFamiTF313889.

Family and domain databases

InterProiIPR000647. CTF/NFI.
IPR020604. CTF/NFI_DNA-bd-dom.
IPR019739. CTF/NFI_DNA-bd_CS.
IPR019548. CTF/NFI_DNA-bd_N.
IPR003619. MAD_homology1_Dwarfin-type.
[Graphical view]
PANTHERiPTHR11492. PTHR11492. 1 hit.
PfamiPF00859. CTF_NFI. 1 hit.
PF03165. MH1. 1 hit.
PF10524. NfI_DNAbd_pre-N. 1 hit.
[Graphical view]
SMARTiSM00523. DWA. 1 hit.
[Graphical view]
PROSITEiPS00349. CTF_NFI_1. 1 hit.
PS51080. CTF_NFI_2. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q14938-1) [UniParc]FASTAAdd to Basket

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

MYSPYCLTQD EFHPFIEALL PHVRAFSYTW FNLQARKRKY FKKHEKRMSK    50
DEERAVKDEL LGEKPEIKQK WASRLLAKLR KDIRPEFRED FVLTITGKKP 100
PCCVLSNPDQ KGKIRRIDCL RQADKVWRLD LVMVILFKGI PLESTDGERL 150
YKSPQCSNPG LCVQPHHIGV TIKELDLYLA YFVHTPESGQ SDSSNQQGDA 200
DIKPLPNGHL SFQDCFVTSG VWNVTELVRV SQTPVATASG PNFSLADLES 250
PSYYNINQVT LGRRSITSPP STSTTKRPKS IDDSEMESPV DDVFYPGTGR 300
SPAAGSSQSS GWPNDVDAGP ASLKKSGKLD FCSALSSQGS SPRMAFTHHP 350
LPVLAGVRPG SPRATASALH FPSTSIIQQS SPYFTHPTIR YHHHHGQDSL 400
KEFVQFVCSD GSGQATGQPN GSGQGKVPGS FLLPPPPPVA RPVPLPMPDS 450
KSTSTAPDGA ALTPPSPSFA TTGASSANRF VSIGPRDGNF LNIPQQSQSW 500
FL 502
Length:502
Mass (Da):55,098
Last modified:June 1, 2001 - v2
Checksum:i55B40A7DC505EA21
GO
Isoform 2 (identifier: Q14938-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     318-359: Missing.

Show »
Length:460
Mass (Da):50,811
Checksum:i057954AC4937AFBE
GO
Isoform 3 (identifier: Q14938-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     419-441: PNGSGQGKVPGSFLLPPPPPVAR → HSQRQAPPLPTGLSASDPGTATF
     442-502: Missing.

Show »
Length:441
Mass (Da):48,867
Checksum:i38CB7326FDC82859
GO
Isoform 4 (identifier: Q14938-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: MYSPYCLTQ → M

Show »
Length:494
Mass (Da):54,142
Checksum:i8924298844FFA791
GO
Isoform 5 (identifier: Q14938-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-8: MYSPYCLT → MLPACRL
     419-441: PNGSGQGKVPGSFLLPPPPPVAR → HSQRQAPPLPTGLSASDPGTATF
     442-502: Missing.

Show »
Length:440
Mass (Da):48,693
Checksum:i1B415FEA50613C96
GO
Isoform 6 (identifier: Q14938-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: MYSPYCLTQ → M
     419-441: PNGSGQGKVPGSFLLPPPPPVAR → HSQRQAPPLPTGLSASDPGTATF
     442-502: Missing.

Note: No experimental confirmation available.

Show »
Length:433
Mass (Da):47,911
Checksum:i7E70888E782E68B5
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601L → P in SOTOS2. 1 Publication
VAR_068720
Natural varianti121 – 1211R → P in SOTOS2. 1 Publication
VAR_068721

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 99MYSPYCLTQ → M in isoform 4 and isoform 6.
VSP_003558
Alternative sequencei1 – 88MYSPYCLT → MLPACRL in isoform 5.
VSP_003559
Alternative sequencei318 – 35942Missing in isoform 2.
VSP_003560Add
BLAST
Alternative sequencei419 – 44123PNGSG…PPVAR → HSQRQAPPLPTGLSASDPGT ATF in isoform 3, isoform 5 and isoform 6.
VSP_003561Add
BLAST
Alternative sequencei442 – 50261Missing in isoform 3, isoform 5 and isoform 6.
VSP_003562Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti91 – 911F → Y in AAA53422. 1 Publication
Sequence conflicti399 – 3991S → P in BAG59737. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L31881 mRNA. Translation: AAA53422.1.
U18759 mRNA. Translation: AAB52369.1.
U18761 mRNA. Translation: AAB52371.1.
AK297261 mRNA. Translation: BAG59737.1.
BT019732 mRNA. Translation: AAV38537.1.
AC004660 Genomic DNA. Translation: AAC15752.1.
AC007787 Genomic DNA. Translation: AAD38240.1.
AC007787 Genomic DNA. Translation: AAD38241.1.
CH471106 Genomic DNA. Translation: EAW84340.1.
BC117113 mRNA. Translation: AAI17114.1.
BC117115 mRNA. Translation: AAI17116.1.
U07811 mRNA. Translation: AAA93126.1.
CCDSiCCDS45996.1. [Q14938-3]
PIRiS50112.
RefSeqiNP_001257973.1. NM_001271044.2.
NP_002492.2. NM_002501.3. [Q14938-3]
XP_005259975.1. XM_005259918.2. [Q14938-1]
UniGeneiHs.257970.

Genome annotation databases

EnsembliENST00000397661; ENSP00000380781; ENSG00000008441. [Q14938-3]
ENST00000585575; ENSP00000468794; ENSG00000008441. [Q14938-4]
ENST00000587260; ENSP00000467785; ENSG00000008441. [Q14938-5]
ENST00000587760; ENSP00000466389; ENSG00000008441.
ENST00000592199; ENSP00000467512; ENSG00000008441. [Q14938-1]
GeneIDi4784.
KEGGihsa:4784.
UCSCiuc002mwd.3. human. [Q14938-3]
uc002mwe.4. human. [Q14938-5]

Polymorphism databases

DMDMi14195678.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L31881 mRNA. Translation: AAA53422.1 .
U18759 mRNA. Translation: AAB52369.1 .
U18761 mRNA. Translation: AAB52371.1 .
AK297261 mRNA. Translation: BAG59737.1 .
BT019732 mRNA. Translation: AAV38537.1 .
AC004660 Genomic DNA. Translation: AAC15752.1 .
AC007787 Genomic DNA. Translation: AAD38240.1 .
AC007787 Genomic DNA. Translation: AAD38241.1 .
CH471106 Genomic DNA. Translation: EAW84340.1 .
BC117113 mRNA. Translation: AAI17114.1 .
BC117115 mRNA. Translation: AAI17116.1 .
U07811 mRNA. Translation: AAA93126.1 .
CCDSi CCDS45996.1. [Q14938-3 ]
PIRi S50112.
RefSeqi NP_001257973.1. NM_001271044.2.
NP_002492.2. NM_002501.3. [Q14938-3 ]
XP_005259975.1. XM_005259918.2. [Q14938-1 ]
UniGenei Hs.257970.

3D structure databases

ProteinModelPortali Q14938.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110856. 11 interactions.
IntActi Q14938. 1 interaction.
MINTi MINT-4533016.
STRINGi 9606.ENSP00000353219.

PTM databases

PhosphoSitei Q14938.

Polymorphism databases

DMDMi 14195678.

Proteomic databases

MaxQBi Q14938.
PaxDbi Q14938.
PRIDEi Q14938.

Protocols and materials databases

DNASUi 4784.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000397661 ; ENSP00000380781 ; ENSG00000008441 . [Q14938-3 ]
ENST00000585575 ; ENSP00000468794 ; ENSG00000008441 . [Q14938-4 ]
ENST00000587260 ; ENSP00000467785 ; ENSG00000008441 . [Q14938-5 ]
ENST00000587760 ; ENSP00000466389 ; ENSG00000008441 .
ENST00000592199 ; ENSP00000467512 ; ENSG00000008441 . [Q14938-1 ]
GeneIDi 4784.
KEGGi hsa:4784.
UCSCi uc002mwd.3. human. [Q14938-3 ]
uc002mwe.4. human. [Q14938-5 ]

Organism-specific databases

CTDi 4784.
GeneCardsi GC19P013106.
HGNCi HGNC:7788. NFIX.
HPAi HPA007533.
MIMi 164005. gene.
602535. phenotype.
614753. phenotype.
neXtProti NX_Q14938.
Orphaneti 561. Marshall-Smith syndrome.
821. Sotos syndrome.
PharmGKBi PA31594.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG252172.
HOVERGENi HBG006561.
InParanoidi Q14938.
KOi K09171.
OMAi GQHSQRQ.
OrthoDBi EOG7WDN2K.
PhylomeDBi Q14938.
TreeFami TF313889.

Enzyme and pathway databases

Reactomei REACT_22339. RNA Polymerase III Abortive And Retractive Initiation.
REACT_63. RNA Polymerase III Transcription Termination.

Miscellaneous databases

ChiTaRSi NFIX. human.
GeneWikii NFIX.
GenomeRNAii 4784.
NextBioi 18450.
PROi Q14938.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q14938.
Bgeei Q14938.
CleanExi HS_NFIX.
Genevestigatori Q14938.

Family and domain databases

InterProi IPR000647. CTF/NFI.
IPR020604. CTF/NFI_DNA-bd-dom.
IPR019739. CTF/NFI_DNA-bd_CS.
IPR019548. CTF/NFI_DNA-bd_N.
IPR003619. MAD_homology1_Dwarfin-type.
[Graphical view ]
PANTHERi PTHR11492. PTHR11492. 1 hit.
Pfami PF00859. CTF_NFI. 1 hit.
PF03165. MH1. 1 hit.
PF10524. NfI_DNAbd_pre-N. 1 hit.
[Graphical view ]
SMARTi SM00523. DWA. 1 hit.
[Graphical view ]
PROSITEi PS00349. CTF_NFI_1. 1 hit.
PS51080. CTF_NFI_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and functional analysis of spliced isoforms of human nuclear factor I-X: interference with transcriptional activation by NFI/CTF in a cell-type specific manner."
    Apt D., Liu Y., Bernard H.U.
    Nucleic Acids Res. 22:3825-3833(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
    Tissue: Foreskin.
  2. "Expression of multiple classes of the nuclear factor-1 family in the developing human brain: differential expression of two classes of NF-1 genes."
    Sumner C., Shinohara T., Durham L., Traub R., Major E.O., Amemiya K.
    J. Neurovirol. 2:87-100(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5).
    Tissue: Brain.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
    Tissue: Brain.
  4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
  5. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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] (ISOFORM 5).
    Tissue: Brain.
  8. "Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH."
    Qian F., Kruse U., Lichter P., Sippel A.E.
    Genomics 28:66-73(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 19-228.
  9. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-280, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  10. "Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome."
    Malan V., Rajan D., Thomas S., Shaw A.C., Louis Dit Picard H., Layet V., Till M., van Haeringen A., Mortier G., Nampoothiri S., Puseljic S., Legeai-Mallet L., Carter N.P., Vekemans M., Munnich A., Hennekam R.C., Colleaux L., Cormier-Daire V.
    Am. J. Hum. Genet. 87:189-198(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SOTOS2 AND MRSHSS, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
  11. Cited for: VARIANTS SOTOS2 PRO-60 AND PRO-121.

Entry informationi

Entry nameiNFIX_HUMAN
AccessioniPrimary (citable) accession number: Q14938
Secondary accession number(s): B4DM25
, O60413, Q0VG09, Q12859, Q13050, Q13052, Q5U094, Q9UPH1, Q9Y6R8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: June 1, 2001
Last modified: September 3, 2014
This is version 135 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 19
    Human chromosome 19: 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

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