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Protein

Nuclear factor 1 A-type

Gene

NFIA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
DNA bindingi1 – 194CTF/NF-IPROSITE-ProRule annotationAdd BLAST194

GO - Molecular functioni

GO - Biological processi

  • DNA replication Source: UniProtKB-KW
  • negative regulation of transcription by RNA polymerase II Source: GO_Central
  • positive regulation of transcription by RNA polymerase II Source: NTNU_SB
  • regulation of transcription, DNA-templated Source: UniProtKB
  • synapse maturation Source: Ensembl
  • ureter development Source: Ensembl
  • viral genome replication Source: UniProtKB

Keywordsi

Molecular functionActivator, DNA-binding
Biological processDNA replication, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-73980 RNA Polymerase III Transcription Termination
R-HSA-749476 RNA Polymerase III Abortive And Retractive Initiation
SIGNORiQ12857

Names & Taxonomyi

Protein namesi
Recommended name:
Nuclear factor 1 A-type
Short name:
NF1-A
Short name:
Nuclear factor 1/A
Alternative name(s):
CCAAT-box-binding transcription factor
Short name:
CTF
Nuclear factor I/A
Short name:
NF-I/A
Short name:
NFI-A
TGGCA-binding protein
Gene namesi
Name:NFIA
Synonyms:KIAA1439
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000162599.15
HGNCiHGNC:7784 NFIA
MIMi600727 gene
neXtProtiNX_Q12857

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Brain malformations with or without urinary tract defects (BRMUTD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by corpus callosum hypoplasia or agenesis, hydrocephalus or ventricular enlargement, developmental delay, and urinary tract defects.
See also OMIM:613735

Organism-specific databases

DisGeNETi4774
MalaCardsiNFIA
MIMi613735 phenotype
OpenTargetsiENSG00000162599
Orphaneti401986 1p31p32 microdeletion syndrome
PharmGKBiPA31590

Polymorphism and mutation databases

BioMutaiNFIA
DMDMi14194959

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001001911 – 509Nuclear factor 1 A-typeAdd BLAST509

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei258PhosphoserineCombined sources1
Modified residuei265PhosphoserineCombined sources1
Modified residuei280PhosphoserineCombined sources1
Modified residuei287PhosphoserineCombined sources1
Modified residuei300PhosphoserineCombined sources1
Modified residuei305PhosphoserineBy similarity1
Modified residuei319PhosphoserineCombined sources1
Modified residuei360PhosphoserineCombined sources1
Modified residuei389Asymmetric dimethylarginineBy similarity1
Modified residuei469PhosphoserineCombined sources1
Modified residuei471PhosphothreonineCombined sources1
Isoform 2 (identifier: Q12857-2)
Modified residuei469PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ12857
MaxQBiQ12857
PaxDbiQ12857
PeptideAtlasiQ12857
PRIDEiQ12857
ProteomicsDBi58986
58987 [Q12857-2]

PTM databases

iPTMnetiQ12857
PhosphoSitePlusiQ12857

Expressioni

Gene expression databases

BgeeiENSG00000162599
CleanExiHS_NFIA
ExpressionAtlasiQ12857 baseline and differential
GenevisibleiQ12857 HS

Organism-specific databases

HPAiHPA006111
HPA008884

Interactioni

Subunit structurei

Binds DNA as a homodimer.

Binary interactionsi

WithEntry#Exp.IntActNotes
NFIBA0A0S2Z4H33EBI-12119652,EBI-16430952

GO - Molecular functioni

  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi110847, 43 interactors
IntActiQ12857, 11 interactors
MINTiQ12857
STRINGi9606.ENSP00000360231

Structurei

3D structure databases

ProteinModelPortaliQ12857
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the CTF/NF-I family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3663 Eukaryota
ENOG410Y16G LUCA
GeneTreeiENSGT00390000009905
HOGENOMiHOG000013028
HOVERGENiHBG006561
InParanoidiQ12857
KOiK09168
OMAiRIKCMEE
OrthoDBiEOG091G0HVY
PhylomeDBiQ12857
TreeFamiTF313889

Family and domain databases

InterProiView protein in InterPro
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
PANTHERiPTHR11492 PTHR11492, 1 hit
PfamiView protein in Pfam
PF00859 CTF_NFI, 1 hit
PF03165 MH1, 1 hit
PF10524 NfI_DNAbd_pre-N, 1 hit
SMARTiView protein in SMART
SM00523 DWA, 1 hit
PROSITEiView protein in PROSITE
PS00349 CTF_NFI_1, 1 hit
PS51080 CTF_NFI_2, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q12857-1) [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

        10         20         30         40         50
MYSPLCLTQD EFHPFIEALL PHVRAFAYTW FNLQARKRKY FKKHEKRMSK
60 70 80 90 100
EEERAVKDEL LSEKPEVKQK WASRLLAKLR KDIRPEYRED FVLTVTGKKP
110 120 130 140 150
PCCVLSNPDQ KGKMRRIDCL RQADKVWRLD LVMVILFKGI PLESTDGERL
160 170 180 190 200
VKSPQCSNPG LCVQPHHIGV SVKELDLYLA YFVHAADSSQ SESPSQPSDA
210 220 230 240 250
DIKDQPENGH LGFQDSFVTS GVFSVTELVR VSQTPIAAGT GPNFSLSDLE
260 270 280 290 300
SSSYYSMSPG AMRRSLPSTS STSSTKRLKS VEDEMDSPGE EPFYTGQGRS
310 320 330 340 350
PGSGSQSSGW HEVEPGMPSP TTLKKSEKSG FSSPSPSQTS SLGTAFTQHH
360 370 380 390 400
RPVITGPRAS PHATPSTLHF PTSPIIQQPG PYFSHPAIRY HPQETLKEFV
410 420 430 440 450
QLVCPDAGQQ AGQVGFLNPN GSSQGKVHNP FLPTPMLPPP PPPPMARPVP
460 470 480 490 500
LPVPDTKPPT TSTEGGAASP TSPTYSTPST SPANRFVSVG PRDPSFVNIP

QQTQSWYLG
Length:509
Mass (Da):55,944
Last modified:June 1, 2001 - v2
Checksum:i42090C6B8B229F87
GO
Isoform 2 (identifier: Q12857-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     474-509: TYSTPSTSPANRFVSVGPRDPSFVNIPQQTQSWYLG → ILVPGIKVAASHHPPDRPPDPFSTL

Show »
Length:498
Mass (Da):54,620
Checksum:i0C47EA46EC78030C
GO
Isoform 3 (identifier: Q12857-3) [UniParc]FASTAAdd to basket

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

Show »
Length:501
Mass (Da):55,038
Checksum:i871DB7C2ACA49A5B
GO
Isoform 4 (identifier: Q12857-4) [UniParc]FASTAAdd to basket

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

Show »
Length:554
Mass (Da):60,894
Checksum:iE05E93FF6701A134
GO

Sequence cautioni

The sequence BAA92677 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti143E → G in BAG61305 (PubMed:14702039).Curated1
Sequence conflicti186A → G in AAA93124 (PubMed:7590749).Curated1
Sequence conflicti240 – 243TGPN → PAPT in AAA93124 (PubMed:7590749).Curated4
Sequence conflicti274S → P in BAG61515 (PubMed:14702039).Curated1
Sequence conflicti331F → L in BAG61305 (PubMed:14702039).Curated1
Sequence conflicti358R → G in BAG61305 (PubMed:14702039).Curated1
Sequence conflicti426K → R in BAG61305 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0468841 – 9MYSPLCLTQ → M in isoform 3. 1 Publication9
Alternative sequenceiVSP_0468831M → MQMCRPASSSVLYVPTRWPG GCGATWQSCPSPPPRRTRIP QRPAVM in isoform 4. 1 Publication1
Alternative sequenceiVSP_036620474 – 509TYSTP…SWYLG → ILVPGIKVAASHHPPDRPPD PFSTL in isoform 2. 1 PublicationAdd BLAST36

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB037860 mRNA Translation: BAA92677.1 Different initiation.
AK299289 mRNA Translation: BAG61305.1
AK299579 mRNA Translation: BAG61515.1
AC092784 Genomic DNA No translation available.
AC096534 Genomic DNA No translation available.
AC096947 Genomic DNA No translation available.
AC099792 Genomic DNA No translation available.
AL096888 Genomic DNA No translation available.
AL355795 Genomic DNA No translation available.
AL445198 Genomic DNA No translation available.
AL445432 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06601.1
BC022264 mRNA Translation: AAH22264.1
U07809 mRNA Translation: AAA93124.1
CCDSiCCDS44156.1 [Q12857-1]
CCDS53321.1 [Q12857-3]
CCDS53322.1 [Q12857-4]
CCDS615.1 [Q12857-2]
RefSeqiNP_001128145.1, NM_001134673.3 [Q12857-1]
NP_001138983.1, NM_001145511.1 [Q12857-3]
NP_001138984.1, NM_001145512.1 [Q12857-4]
NP_005586.1, NM_005595.4 [Q12857-2]
UniGeneiHs.740757
Hs.744898

Genome annotation databases

EnsembliENST00000371187; ENSP00000360229; ENSG00000162599 [Q12857-2]
ENST00000371189; ENSP00000360231; ENSG00000162599 [Q12857-4]
ENST00000403491; ENSP00000384523; ENSG00000162599 [Q12857-1]
ENST00000407417; ENSP00000384680; ENSG00000162599 [Q12857-3]
GeneIDi4774
KEGGihsa:4774
UCSCiuc001czv.4 human [Q12857-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiNFIA_HUMAN
AccessioniPrimary (citable) accession number: Q12857
Secondary accession number(s): B4DRJ3
, B4DS53, F5H0R0, F8W8W3, Q8TA97, Q9H3X9, Q9P2A9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: June 1, 2001
Last modified: June 20, 2018
This is version 169 of the entry and version 2 of the sequence. See 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

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