User:Carly Rasmussen/sandbox/KIAA1841

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KIAA1841 is a gene in humans that encodes a protein known as KIAA1841 (uncharacterized protein KIAA1841).

Gene

Location

Location of KIAA1841 on chromosome 2

KIAA1841 is located on the long arm of chromosome 2 (2q14), starting at 61297486 and ending at 61349294. The KIAA1841 gene spans 52809 base pairs and is orientated on the ++ strand(4). The coding region is made up of 4292 base pairs and the protein sequence of 718 amino acids(1).

Gene Neighborhood

Genes PEX13 and C2orf74 neighbor KIAA1841 on chromosome 2.

Expression

Diagram depicting the expression of KIAA1841 in tissues throughout the body.

KIAA1841 is highly expressed in reproductive structures and nervous tissue. These include the brain, prostate, cervix, ear and nervous tissue. It is intermediately expressed in the lungs and spinal cord. KIAA1841 is expressed at low levels in a wide range of tissues through out the human body.

Promoter

According to Genomatix’s ElDorado program the promoter region of KIAA1841 is predicted to be [add length] base pairs in length. The promoter region starts [add #] base pairs upstream of the 5’ UTR of KIAA1841 mRNA transcript and contains part of this 5’ UTR.

Transcript Variants

In humans, the KIAA1841 gene produces 18 alternatively spliced transcript variants as well as 3 unspliced. From the 18 spliced variants 4 form a protein product. The main transcript in humans is trascript ID ENST00000402291, or OTTHUMT00000325477.

Homology

Paralogs

There are no paralogs of KIAA1841

Orthologs

Species	Common Name	NCBI Accession #	Sequence Length	Protein Identity	mRNA Identity
Homo Sapiens	Human	NP_001123465.1	718	100%	100%
Odobenus Rosmarus Divergens	Walrus	XP_004397774.1	718	94%	97%
Canis Lupus Familiaris	Grey Wolf	XP_538505	718	92%	96%
Equus Caballus	Horse	XP_001495879.1	765	93%	96%
Mus Musculus	Mouse	NP_082136.2	718	89%	94%
Echinops Telfairi	Hedgehog	XP_004710320.1	718	86%	92%
Pelodiscus Sinensis	Soft-Shelled Turtle	XP_006122225.1	718	78%	88%
Anas Platyrhynchos	Mallard Duck	XP_005016968.1	719	78%	87%
Gallus Gallus	Red Junglefowl	NP_001186348.1	718	76%	87%
Xenopus (Silurana) Tropicalis	Western Clawed Frog	XP_004914757.1	715	71%	83%
Danio Rerio	Zebrafish	XP_001333668.2	735	60%	73%
Drosophila Melanogaster	Fruit Fly	NP_648346.1	889	38%	62%
Apis Mellifera	Western Honey Bee	XP_006559923.1	849	40%	62%
Anopheles Gambiae	Mosquito	XP_558222.3	806	40%	61%

Orthologs of the human protein KIAA1841 are listed above in descending order or date of divergence and then ascending order of percent identity. KIAA1841 is highly conserved throughout all orthologs, this is demonstrated with a 40% identity in the least similar ortholog. KAA1841 has evolved slowly and evenly over time.

Homologous Domains

The domain of unknown function 3342 is conserved in all orthologs. It is the highest conserved region of the protein. Conservation of this domain was traced all the way back to a fungus called Betrachochytrium dendrobatidis, which diverged 1216 millions of years ago from humans.

Protein

General Properties

The nucleus is the target of the protein. There is a Primary sequence & variants/isoforms

	KIAA1841	DUF3342	N Terminus	C Terminus
Isoelectric Point	6.5	6.74	5.5	8.2
Positive Charge (%)	13.8	13.2	11.7	15.9+
Negative Charge (%)	14.4	13.5	14.2	14.5
Net Charge	-0.6	-0.3	-2.5	1.4
Major Hydrophobics (%)	24.8	28.7	27.2	22.3

Composition

There is an even distribution of amino acids comprising KIAA1841. The percent composition of each amino acid is fairly consistent throughout the orthologs of the protein. The most distant ortholog Leishmania infantum displays the most variance in amino acid composition. There is a higher percent composition of alanine, histidine and leucine and a lower composition of lysine.

The protein sequence of KIAA1841 is not rich or low in any amino acids. The same is true for Mus musculus, Danio rerio, Drosophila melanogaster but not true for the most distantly related.1 Leishmania infantum is rich is histidine. Humans and closely related orthologs are composed of 2.2% to 3.8% histidine compared to 5% in Leishmania infantum.

Domains

The DUF3342 domain stretches from 147-449 on KIAA1841 and has a molecular weight of 35.7 kdal. The DUF domain is low in G (2%) and rich is C (6.3%). Both of the non-polar stretches in the protein are located within the DUF domian. One at the beginning and one at the end. The domain is from 147-449 of KIAA1841.

pfam11822 is a region on KIAA1841, which has a domain DUF3342 of unknown function(5). This family of proteins has yet to be functionally characterized and it is found in bacteria. This domain is usually between 170 amino acids and 303 amino acids in length. The N terminal half of this protein family is a BTB-like domain. BTB domains multifunctional protein-protein interaction motif that is involved in a number of different cellular functions, including roles in regulating transcription, cytoskeleton dynamics, gating and assembly of ion channels and is involed with ubiquitination of proteins. BTB domain stuctures are highly conversed and are found on proteins that only have one or two other types of domains(6).

Post-Translational Modifications

There are three regions of low complexity near the beginning of the protein. KIAA1841 is predicted to be highly phosphorylated post modification. There are 50 predicted phosphorylated sites. There is one leucine-rich nuclear export signal toward the end of the protein. The protein is targeted for the nucleus. There is one sulfated tyrosine, which stregthens protein protein interactions. Two motifs with high probability of post translational modification sumoylation sites were found. Sumoylation sites are involved in a number of cellular processes, including nuclear-sytosolic transport, transcriptional regulation and protein stability.

Secondary Structure

KIAA1841 is primarily composed of alpha helices and beta sheets. Alpha helices comprise the majority of the protein, this is true for the DUF domain and both terminuses. The DUF domain has slightly less beta sheets compared to the protein as a whole and the C terminus has an even smaller amount of beta sheets comprising it’s secondary structure.

	KIAA1841	DUF3342	N Terminus	C Terminus
2° Structure: α Helice (%)	68	68	63.9	70.1
2° Structure: β Sheet (%)	61	49.2	60.8	35.8
2° Structure: β Turn (%)	14.1	9.9	12.8	15.4

3° structure

Paragraph about the tertiary structure

===Subcellular Localization Paragraph about subcellular localization

Interacting Proteins

TFs that might bind to regulatory sequence Proteins found in Y2H screens (developmental; functional) Selective (as in makes some sense) partners

Clinical Signifcance

Disease Association

Diseases associated with this gene are crohn’s disease, celiac disease and inflammatory bowel disease.

Mutations

Paragraph about mutations