Q8N205 (SYNE4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Nesprin-4

Alternative name(s):
Nuclear envelope spectrin repeat protein 4

Gene names

Name:	SYNE4
Synonyms:	C19orf46

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	404 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Contributes to the establishment of secretory epithelial morphology by promoting kinesin-dependent apical migration of the centrosome and Golgi apparatus and basal localization of the nucleus By similarity.
Subunit structure	Interacts with KIF5B and KCL1 By similarity.
Subcellular location	Nucleus outer membrane; Single-pass type IV membrane protein By similarity. Note: The nucleus outer membrane location requires the presence of a SUN domain-containing protein By similarity.
Domain	The KASH domain, which contains a transmembrane domain, mediates the nuclear envelope targeting and is involved in the binding to SUN1 and SUN2 through recognition of their SUN domains By similarity.
Sequence similarities	Belongs to the nesprin family. Contains 1 KASH domain.
Sequence caution	The sequence BAC04222.1 differs from that shown. Reason: Intron retention.

Ontologies

Keywords
Cellular component	Membrane Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	establishment of epithelial cell apical/basal polarity Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	integral to nuclear outer membrane Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8N205-1)

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.

Isoform 2 (identifier: Q8N205-2)

The sequence of this isoform differs from the canonical sequence as follows:
     94-206: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 404	404	Nesprin-4		PRO_0000306264
Regions
	Topological domain	1 – 355	355	Cytoplasmic Potential
	Transmembrane	356 – 376	21	Helical; Anchor for type IV membrane protein; Potential
	Topological domain	377 – 404	28	Perinuclear space Potential
	Domain	347 – 404	58	KASH
Natural variations
	Alternative sequence	94 – 206	113	Missing in isoform 2.		VSP_028444
	Natural variant	224	1	S → L. Corresponds to variant rs34818970 [ dbSNP | Ensembl ].		VAR_035284
	Natural variant	278	1	Q → H. Ref.3 Corresponds to variant rs2285422 [ dbSNP | Ensembl ].		VAR_035285

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 2, 2007. Version 2. Checksum: F15E209FB06636D2	FASTA	404	43,512
	10 20 30 40 50 60 MALSLPLGPR LGSEPLNHPP GAPREADIVG CTVCPASGEE STSPEQAQTL GQDSLGPPEH 70 80 90 100 110 120 FQGGPRGNEP AAHPPRWSTP SSYEDPAGGK HCEHPISGLE VLEAEQNSLH LCLLGLGRRL 130 140 150 160 170 180 QDLEQGLGHW ALAQSGMVQL QALQVDLRGA AERVEALLAF GEGLAQRSEP RAWAALEQIL 190 200 210 220 230 240 RALGAYRDSI FRRLWQLQAQ LVSYSLVFEE ANTLDQDLEV EGDSDWPGPG GVWGPWAPSS 250 260 270 280 290 300 LPTSTELEWD PAGDIGGLGP LGQKTARTLG VPCELCGQRG PQGRGQGLEE ADTSHSRQDM 310 320 330 340 350 360 LESGLGHQKR LARHQRHSLL RKPQDKKRQA SPHLQDVRLE GNPGAPDPAS RQPLTFLLIL 370 380 390 400 FLLFLLLVGA MFLLPASGGP CCSHARIPRT PYLVLSYVNG LPPV
	Isoform 2 [UniParc]. Checksum: A8ABE973A89DD240	FASTA	291	30,975
	10 20 30 40 50 60 MALSLPLGPR LGSEPLNHPP GAPREADIVG CTVCPASGEE STSPEQAQTL GQDSLGPPEH 70 80 90 100 110 120 FQGGPRGNEP AAHPPRWSTP SSYEDPAGGK HCEVFEEANT LDQDLEVEGD SDWPGPGGVW 130 140 150 160 170 180 GPWAPSSLPT STELEWDPAG DIGGLGPLGQ KTARTLGVPC ELCGQRGPQG RGQGLEEADT 190 200 210 220 230 240 SHSRQDMLES GLGHQKRLAR HQRHSLLRKP QDKKRQASPH LQDVRLEGNP GAPDPASRQP 250 260 270 280 290 LTFLLILFLL FLLLVGAMFL LPASGGPCCS HARIPRTPYL VLSYVNGLPP V

References

[1]	"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 1). Tissue: Thymus.
[2]	"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].
[3]	"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 2), VARIANT HIS-278. Tissue: Mammary carcinoma.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK093764 mRNA. Translation: BAC04222.1. Sequence problems. AC002116 Genomic DNA. No translation available. AF038458 Genomic DNA. No translation available. BC052573 mRNA. Translation: AAH52573.1.
IPI	IPI00385570. IPI00788878.
RefSeq	NP_001034965.1. NM_001039876.1.
UniGene	Hs.436743.
3D structure databases
ProteinModelPortal	Q8N205.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-8247425.
PTM databases
PhosphoSite	Q8N205.
Polymorphism databases
DMDM	158706458.
Proteomic databases
PaxDb	Q8N205.
PRIDE	Q8N205.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000324444; ENSP00000316130; ENSG00000181392. ENST00000340477; ENSP00000343152; ENSG00000181392.
GeneID	163183.
KEGG	hsa:163183.
UCSC	uc002ocq.1. human. uc002ocs.1. human.
Organism-specific databases
CTD	163183.
GeneCards	GC19M036496.
HGNC	HGNC:26703. SYNE4.
neXtProt	NX_Q8N205.
PharmGKB	PA145149542.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG39456.
HOGENOM	HOG000111992.
HOVERGEN	HBG107763.
InParanoid	Q8N205.
OMA	VNGPPPI.
OrthoDB	EOG4TF0K1.
Gene expression databases
ArrayExpress	Q8N205.
Bgee	Q8N205.
CleanEx	HS_C19orf46.
Genevestigator	Q8N205.
Family and domain databases
InterPro	IPR012315. KASH. [Graphical view]
Pfam	PF10541. KASH. 1 hit. [Graphical view]
PROSITE	PS51049. KASH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	163183.
NextBio	88324.

Entry information

Entry name

SYNE4_HUMAN

Accession

Primary (citable) accession number: Q8N205
Secondary accession number(s): A8MRS0, A8MYE3, Q7Z7L3

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 2, 2007
Last sequence update:	October 2, 2007
Last modified:	May 29, 2013
This is version 76 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.