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Q8NFF2

- NCKX4_HUMAN

UniProt

Q8NFF2 - NCKX4_HUMAN

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Protein

Sodium/potassium/calcium exchanger 4

Gene

SLC24A4

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

Functioni

Transports 1 Ca2+ and 1 K+ in exchange for 4 Na+. Controls the rapid response termination and proper regulation of adaptation in olfactory sensory neurons (OSNs) which subsequently influences how odor information is encoded and perceived. May play a role in calcium transport during amelogenesis (By similarity).By similarity

GO - Molecular functioni

  1. calcium, potassium:sodium antiporter activity Source: Ensembl
  2. symporter activity Source: UniProtKB-KW

GO - Biological processi

  1. amelogenesis Source: UniProtKB
  2. cellular calcium ion homeostasis Source: Ensembl
  3. ion transport Source: Reactome
  4. response to stimulus Source: UniProtKB-KW
  5. sensory perception of smell Source: UniProtKB
  6. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Antiport, Calcium transport, Ion transport, Olfaction, Potassium transport, Sensory transduction, Sodium transport, Symport, Transport

Keywords - Ligandi

Calcium, Potassium, Sodium

Enzyme and pathway databases

ReactomeiREACT_19320. Sodium/Calcium exchangers.

Protein family/group databases

TCDBi2.A.19.4.5. the ca(2+):cation antiporter (caca) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium/potassium/calcium exchanger 4
Alternative name(s):
Na(+)/K(+)/Ca(2+)-exchange protein 4
Solute carrier family 24 member 4
Gene namesi
Name:SLC24A4
Synonyms:NCKX4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:10978. SLC24A4.

Subcellular locationi

Cytoplasm By similarity. Membrane By similarity; Multi-pass membrane protein

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini39 – 9759ExtracellularSequence AnalysisAdd
BLAST
Transmembranei98 – 11821HelicalSequence AnalysisAdd
BLAST
Topological domaini119 – 17254CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei173 – 19321HelicalSequence AnalysisAdd
BLAST
Topological domaini194 – 2007ExtracellularSequence Analysis
Transmembranei201 – 22121HelicalSequence AnalysisAdd
BLAST
Topological domaini222 – 2243CytoplasmicSequence Analysis
Transmembranei225 – 24521HelicalSequence AnalysisAdd
BLAST
Topological domaini246 – 424179ExtracellularSequence AnalysisAdd
BLAST
Transmembranei425 – 44521HelicalSequence AnalysisAdd
BLAST
Topological domaini446 – 45712CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei458 – 47821HelicalSequence AnalysisAdd
BLAST
Topological domaini479 – 4791ExtracellularSequence Analysis
Transmembranei480 – 50021HelicalSequence AnalysisAdd
BLAST
Topological domaini501 – 52626CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei527 – 54721HelicalSequence AnalysisAdd
BLAST
Topological domaini548 – 55710ExtracellularSequence Analysis
Transmembranei558 – 57821HelicalSequence AnalysisAdd
BLAST
Topological domaini579 – 5868CytoplasmicSequence Analysis
Transmembranei587 – 60721HelicalSequence AnalysisAdd
BLAST
Topological domaini608 – 62215ExtracellularSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. integral component of membrane Source: UniProtKB-KW
  3. membrane Source: UniProtKB
  4. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Amelogenesis imperfecta, hypomaturation type, 2A5 (AI2A5) [MIM:615887]: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti146 – 1461A → V in AI2A5; autosomal recessive. 1 Publication
VAR_071475
Natural varianti499 – 4991S → C in AI2A5; autosomal recessive. 1 Publication
VAR_070183

Keywords - Diseasei

Amelogenesis imperfecta, Disease mutation

Organism-specific databases

MIMi210750. phenotype.
615887. phenotype.
Orphaneti100032. Hypocalcified amelogenesis imperfecta.
100033. Hypomaturation amelogenesis imperfecta.
PharmGKBiPA35854.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3838Sequence AnalysisAdd
BLAST
Chaini39 – 622584Sodium/potassium/calcium exchanger 4PRO_0000019373Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi69 – 691N-linked (GlcNAc...)Sequence Analysis
Glycosylationi76 – 761N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8NFF2.
PRIDEiQ8NFF2.

Expressioni

Tissue specificityi

Expressed abundantly in all regions of the brain, aorta, lung and thymus. Expressed at lower levels in the stomach and intestine.

Gene expression databases

BgeeiQ8NFF2.
CleanExiHS_SLC24A4.
ExpressionAtlasiQ8NFF2. baseline and differential.
GenevestigatoriQ8NFF2.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000298877.

Structurei

3D structure databases

ProteinModelPortaliQ8NFF2.
SMRiQ8NFF2. Positions 120-242, 452-536.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati139 – 17941Alpha-1Add
BLAST
Repeati495 – 52632Alpha-2Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi395 – 40612Poly-ProAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0530.
GeneTreeiENSGT00760000119209.
HOVERGENiHBG054881.
InParanoidiQ8NFF2.
KOiK13752.
OMAiKLMAPVN.
OrthoDBiEOG776SP8.
PhylomeDBiQ8NFF2.
TreeFamiTF318759.

Family and domain databases

InterProiIPR004481. K/Na/Ca-exchanger.
IPR004837. NaCa_Exmemb.
[Graphical view]
PANTHERiPTHR10846. PTHR10846. 1 hit.
PfamiPF01699. Na_Ca_ex. 2 hits.
[Graphical view]
TIGRFAMsiTIGR00367. TIGR00367. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8NFF2-1) [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
MALRGTLRPL KVRRRREMLP QQVGFVCAVL ALVCCASGLF GSLGHKTASA
60 70 80 90 100
SKRVLPDTWR NRKLMAPVNG TQTAKNCTDP AIHEFPTDLF SNKERQHGAV
110 120 130 140 150
LLHILGALYM FYALAIVCDD FFVPSLEKIC ERLHLSEDVA GATFMAAGSS
160 170 180 190 200
TPELFASVIG VFITHGDVGV GTIVGSAVFN ILCIIGVCGL FAGQVVRLTW
210 220 230 240 250
WAVCRDSVYY TISVIVLIVF IYDEQIVWWE GLVLIILYVF YILIMKYNVK
260 270 280 290 300
MQAFFTVKQK SIANGNPVNS ELEAGNDFYD GSYDDPSVPL LGQVKEKPQY
310 320 330 340 350
GKNPVVMVDE IMSSSPPKFT FPEAGLRIMI TNKFGPRTRL RMASRIIINE
360 370 380 390 400
RQRLINSANG VSSKPLQNGR HENIENGNVP VENPEDPQQN QEQQPPPQPP
410 420 430 440 450
PPEPEPVEAD FLSPFSVPEA RGDKVKWVFT WPLIFLLCVT IPNCSKPRWE
460 470 480 490 500
KFFMVTFITA TLWIAVFSYI MVWLVTIIGY TLGIPDVIMG ITFLAAGTSV
510 520 530 540 550
PDCMASLIVA RQGLGDMAVS NTIGSNVFDI LVGLGVPWGL QTMVVNYGST
560 570 580 590 600
VKINSRGLVY SVVLLLGSVA LTVLGIHLNK WRLDRKLGVY VLVLYAIFLC
610 620
FSIMIEFNVF TFVNLPMCRE DD
Length:622
Mass (Da):69,042
Last modified:July 27, 2011 - v2
Checksum:i00D69370E55EE388
GO
Isoform 2 (identifier: Q8NFF2-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-64: Missing.

Show »
Length:558
Mass (Da):61,938
Checksum:i3DC0E1DFBC5D7828
GO
Isoform 3 (identifier: Q8NFF2-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     275-293: Missing.

Show »
Length:603
Mass (Da):67,001
Checksum:iC8A7D3637BF861F8
GO
Isoform 4 (identifier: Q8NFF2-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-109: Missing.
     172-210: Missing.

Note: No experimental confirmation available.

Show »
Length:474
Mass (Da):52,760
Checksum:i5C9395536A220F7A
GO

Sequence cautioni

The sequence AAH69653.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAM76070.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAM76071.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC04715.1 differs from that shown. Reason: Probable cloning artifact.Curated
The sequence CAD38903.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti444 – 4441C → S in BAC04715. (PubMed:14702039)Curated
Sequence conflicti560 – 5601Y → H in BAG58108. (PubMed:14702039)Curated

Polymorphismi

Genetic variants in SLC24A4 define the skin/hair/eye pigmentation variation locus 6 (SHEP6) [MIMi:210750]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti146 – 1461A → V in AI2A5; autosomal recessive. 1 Publication
VAR_071475
Natural varianti499 – 4991S → C in AI2A5; autosomal recessive. 1 Publication
VAR_070183
Natural varianti613 – 6131V → I.
Corresponds to variant rs4900130 [ dbSNP | Ensembl ].
VAR_042664

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 109109Missing in isoform 4. 1 PublicationVSP_008370Add
BLAST
Alternative sequencei1 – 6464Missing in isoform 2. 1 PublicationVSP_008369Add
BLAST
Alternative sequencei172 – 21039Missing in isoform 4. 1 PublicationVSP_008371Add
BLAST
Alternative sequencei275 – 29319Missing in isoform 3. 2 PublicationsVSP_008372Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF520704 mRNA. Translation: AAM76070.1. Different initiation.
AF520705 mRNA. Translation: AAM76071.1. Different initiation.
AF520706 mRNA. Translation: AAM76072.1.
AK096171 mRNA. Translation: BAC04715.1. Sequence problems.
AK295059 mRNA. Translation: BAG58108.1.
AL118559 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW81485.1.
BC069653 mRNA. Translation: AAH69653.1. Different initiation.
AL834225 mRNA. Translation: CAD38903.1. Different initiation.
CCDSiCCDS45155.2. [Q8NFF2-3]
CCDS45156.1. [Q8NFF2-2]
CCDS9903.2. [Q8NFF2-1]
RefSeqiNP_705932.2. NM_153646.3. [Q8NFF2-1]
NP_705933.2. NM_153647.3. [Q8NFF2-3]
NP_705934.1. NM_153648.3. [Q8NFF2-2]
XP_005267398.1. XM_005267341.1. [Q8NFF2-1]
UniGeneiHs.385530.

Genome annotation databases

EnsembliENST00000393265; ENSP00000376948; ENSG00000140090. [Q8NFF2-2]
ENST00000531433; ENSP00000433302; ENSG00000140090. [Q8NFF2-3]
ENST00000532405; ENSP00000431840; ENSG00000140090. [Q8NFF2-1]
GeneIDi123041.
KEGGihsa:123041.
UCSCiuc001yai.3. human. [Q8NFF2-1]
uc010twm.2. human. [Q8NFF2-3]

Polymorphism databases

DMDMi341941166.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF520704 mRNA. Translation: AAM76070.1 . Different initiation.
AF520705 mRNA. Translation: AAM76071.1 . Different initiation.
AF520706 mRNA. Translation: AAM76072.1 .
AK096171 mRNA. Translation: BAC04715.1 . Sequence problems.
AK295059 mRNA. Translation: BAG58108.1 .
AL118559 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW81485.1 .
BC069653 mRNA. Translation: AAH69653.1 . Different initiation.
AL834225 mRNA. Translation: CAD38903.1 . Different initiation.
CCDSi CCDS45155.2. [Q8NFF2-3 ]
CCDS45156.1. [Q8NFF2-2 ]
CCDS9903.2. [Q8NFF2-1 ]
RefSeqi NP_705932.2. NM_153646.3. [Q8NFF2-1 ]
NP_705933.2. NM_153647.3. [Q8NFF2-3 ]
NP_705934.1. NM_153648.3. [Q8NFF2-2 ]
XP_005267398.1. XM_005267341.1. [Q8NFF2-1 ]
UniGenei Hs.385530.

3D structure databases

ProteinModelPortali Q8NFF2.
SMRi Q8NFF2. Positions 120-242, 452-536.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000298877.

Protein family/group databases

TCDBi 2.A.19.4.5. the ca(2+):cation antiporter (caca) family.

Polymorphism databases

DMDMi 341941166.

Proteomic databases

PaxDbi Q8NFF2.
PRIDEi Q8NFF2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000393265 ; ENSP00000376948 ; ENSG00000140090 . [Q8NFF2-2 ]
ENST00000531433 ; ENSP00000433302 ; ENSG00000140090 . [Q8NFF2-3 ]
ENST00000532405 ; ENSP00000431840 ; ENSG00000140090 . [Q8NFF2-1 ]
GeneIDi 123041.
KEGGi hsa:123041.
UCSCi uc001yai.3. human. [Q8NFF2-1 ]
uc010twm.2. human. [Q8NFF2-3 ]

Organism-specific databases

CTDi 123041.
GeneCardsi GC14P092788.
HGNCi HGNC:10978. SLC24A4.
MIMi 210750. phenotype.
609840. gene.
615887. phenotype.
neXtProti NX_Q8NFF2.
Orphaneti 100032. Hypocalcified amelogenesis imperfecta.
100033. Hypomaturation amelogenesis imperfecta.
PharmGKBi PA35854.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0530.
GeneTreei ENSGT00760000119209.
HOVERGENi HBG054881.
InParanoidi Q8NFF2.
KOi K13752.
OMAi KLMAPVN.
OrthoDBi EOG776SP8.
PhylomeDBi Q8NFF2.
TreeFami TF318759.

Enzyme and pathway databases

Reactomei REACT_19320. Sodium/Calcium exchangers.

Miscellaneous databases

GenomeRNAii 123041.
NextBioi 81061.
PROi Q8NFF2.
SOURCEi Search...

Gene expression databases

Bgeei Q8NFF2.
CleanExi HS_SLC24A4.
ExpressionAtlasi Q8NFF2. baseline and differential.
Genevestigatori Q8NFF2.

Family and domain databases

InterProi IPR004481. K/Na/Ca-exchanger.
IPR004837. NaCa_Exmemb.
[Graphical view ]
PANTHERi PTHR10846. PTHR10846. 1 hit.
Pfami PF01699. Na_Ca_ex. 2 hits.
[Graphical view ]
TIGRFAMsi TIGR00367. TIGR00367. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning of a fourth member of the potassium-dependent sodium-calcium exchanger gene family, NCKX4."
    Li X.-F., Kraev A.S., Lytton J.
    J. Biol. Chem. 277:48410-48417(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [MRNA] OF 10-622 (ISOFORMS 1 AND 3).
  2. "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 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-474 (ISOFORM 4).
    Tissue: Brain.
  3. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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] OF 10-622 (ISOFORM 1).
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 294-622 (ISOFORM 1).
    Tissue: Testis.
  7. Cited for: INVOLVEMENT IN SHEP6.
  8. "Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta."
    Parry D.A., Poulter J.A., Logan C.V., Brookes S.J., Jafri H., Ferguson C.H., Anwari B.M., Rashid Y., Zhao H., Johnson C.A., Inglehearn C.F., Mighell A.J.
    Am. J. Hum. Genet. 92:307-312(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN AI2A5, VARIANT AI2A5 CYS-499.
  9. Cited for: INVOLVEMENT IN AI2A5, VARIANT AI2A5 VAL-146.

Entry informationi

Entry nameiNCKX4_HUMAN
AccessioniPrimary (citable) accession number: Q8NFF2
Secondary accession number(s): B4DHE7
, B9ZVY2, Q8N8U6, Q8NCX1, Q8NFF0, Q8NFF1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: July 27, 2011
Last modified: October 29, 2014
This is version 114 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 14
    Human chromosome 14: 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